Dr. Ashutosh Halder

Additional Professor

Department of Reproductive Biology

All India Institute of Medical Sciences, New delhi

 

Dr. Ashutosh Halder                                    Specialization

Additional Professor                                           Reproductive Genetics

ashutoshhalder@gmail.com                                      Molecular Cytogenetics

MBBS (Cal), MD (OG, AIIMS), DNB (OG),            Reproductive Endocrinology

DM (Med Genet, SGPGI), FAMS                              Clinical Embryology

Commonwealth Scholar (Fetal Medicine)                Teratology

(Ex Asst. Prof., Med Genet, SGPGIMS, Lucknow)   Publications

                                                                                    Citations (google scholar)

 (http://scholar.google.com/citations?user=FRoyvTsAAAAJ)

Teaching Courses Guided

PhD (January & July sessions, AIIMS; since 2001)

DM (Med Genet, SGPGI; up to 2001)

 

Training Provided

Long Term:                 Molecular Cytogenetics, Clinical Embryology, Reproductive Endocrinology, etc

National Workshop:   One Week Workshop on Molecular Cytogenetics as Annual Event

 

Clinical/Laboratory Services Provided

Andrology (Primary Testicular failure)                   

Molecular Cytogenetics

 

Consultation/Research Areas

1.    Recurrent Pregnancy Failure (preferably 5 or more recurrent abortions/fetal deaths)

2.    Recurrent Malformations (preferably 2 or more affected family)

3.    Disorder of sex development (preferably 2 or more affected family)

4.    Reproductive Endocrine Disorders viz., PCOS, Primary Amenorrhoea, Premature Ovarian Failure, Hyperprolactinemia, etc (preferably 2 or more affected family)

5.    Endometriosis (preferably 2 or more affected family)

6.    Hydatidiform Mole/Gestational Trophoblastic Tumor (preferably 2 or more recurrent; 2 or more family member affected)

7.    Familial Reproductive Cancers Breast, Ovary, Uterine, Testes, Prostate, (3 or more affected family)

 

Research Conducted

Completed:

1.     Analysis for sperm aneuploidy of idiopathic oligoazoospermic & teratospermic men

2.     Evaluation of molecular basis of clinical aggressiveness in cervical carcinoma of young age

3.     Molecular basis of clinical aggressiveness in papillary thyroid carcinoma

4.     Role of Cytokines in Premature Ovarian Failure (collaborative)

5.     Double blind randomized clinical trial of polyherbal preparation Ashokarista on post- menopausal women (collaborative)

6.     Evaluation of anembryonic pregnancy and early missed abortion product for chromosomal aneuploidy and uniparental disomy by molecular method

7.     Chromosome aneuploidy and mosaicism in preimplantation embryo (human)

8.      Chromosome aneuploidy and mosaicism in preimplantation embryo (mouse)

9.     Prevalence of 22q11 deletion syndrome in children with structural cardiac malformation: a tertiary care referral hospital-based study in Delhi

10.  Molecular Basis of Multiple Myeloma (collaborative)

11.  Rapid Aneuploidy Diagnosis by PRINS

12.  Spermiation Defect

13.  Genetic & Endocrine Evaluation of Primary Testicular Failure

Ongoing:

1.     An investigation for sub-microscopic chromosomal imbalances and uniparental disomy by array comparative genomic hybridization (aCGH) in FISH negative clinically suspected 22q11.2 microdeletion syndromes

2.     Understanding Dynamics of Skewed Sex Ratio

3.     An Investigation to find out mechanism for Phenotypic Heterogeneity/Variability in Microdeletion Syndrome

4.     Genomics of Primary Testicular Failure

 

Visions

To develop reproductive genetics, reproductive endocrinology & reproductive onco-genetics

To develop semen cryopreservation (semen banking & AID) facility 

To develop gamete, embryo & gonad cryopreservation facility

To develop biobank and Reproductive Genetic Registry for future research

To develop clinical embryology

To start courses (teaching/training) on Molecular Cytogenetics, Reproductive Genetics, Clinical Embryology, Cryopreservation, etc

 

Publications

Published Full Article

1.      Haldar A, Sharma AK, Agarwal SS, et al. OEIS Complex with Cranio-Facial anomalies: Defect of Blastogenesis?  Am. J. Med. Genetics. 1994; 53: 21-23.

2.      Sharma AK, Haldar A, et al. Postmortem Radiography of perinatal deaths: an aid to Genetic Counseling. Indian Pediatrics. 1994; 31(6): 702-706.    

3.      Phadke SR, Haldhar A, et al.  GAPO Syndrome in a child without Dermal Hyaline Deposit. Am.  J. Med. Genetics. 1994; 51: 191-193.

4.      Sharma AK, Haldar A, et al. Preaxial Brachydactyly with Abduction of Thumbs & Hallux Varus: a distinct entity. Am. J. Med. Genetics. 1994; 49(3): 274-277.

5.      Sharma AK, Phadke SR, Haldar A, et al. Jercolevine Syndrome: a case report. Indian Pediatrics. 1994; 31(6): 707-708.

6.      Sharma AK, Haldar A, et al. Marshall-Smith Syndrome: further observations. Indian Pediatrics. 1994; 31(8): 1098-1100.

7.      Buckshee K, Haldar A, et al. Bioeffects of Diagnostic Ultrasound in Newborn. J. Obst. & Gynecol India. 1994; 44(1): 859-862.

8.      Tutschek B, Sherlock J, Halder A, Delhanty J, Rodeck C, Adinolfi M. Isolation of Fetal Cells from transcervical samples by Micromanipulation: Molecular confirmation of their fetal origin and diagnosis of fetal aneuploidies. Prenatal Diagnosis. 1995; 15(10): 951-960.   

9.      Adinolfi M, Sherlock J, Tutschek B, Halder A, Delhanty J, Rodeck C. Detection of Fetal Cells in Transcervical Sample & Prenatal Diagnosis of Chromosomal abnormalities. Prenatal Diagnosis. 1995; 15(10): 943-950.

10.   Agarwal S, Kishore R, Haldar A, et al.  Outcome of pregnancy in women with Recurrent Spontaneous Abortion following Immunotherapy with Allogenic Lymphocytes. Human Reproduction.  1995; 10(9): 2280-2284.

11.   Kishore R, Agarwal S, Haldar A, et al.  HLA sharing, Antipaternal Cytotoxic Antibodies & MLR Blocking Factors in women with Recurrent Abortions. J. Obstet. Gynaecol. Res. 1996; 22(2): 177-183.

12.   Sherlock J, Halder A, Tutschek B, Rodeck C, Adinolfi M. Prenatal detection of fetal aneuploidies using transcervical cell samples. J Med Genet. 1997; 34: 302-305.

13.   Halder A & Tutschek B.  Analysis of meiotic segregation in human nondecondensed interphase spermatozoa by multicolor rapid direct FISH. Ind J Med Res. 1998; 107: 94-97.

14.   Ruangvutilert P, Halder A, Jauniaux E, Arienzo M, Cirigliano V and Sherlock J.  A minimally invasive prenatal diagnosis technique for the collection of transcervical cells. Prenatal Neonatal Medicine 1998; 3: 294 - 296.

15.   Halder A, Pahi J, Pradhan M, Pandey A, Gujral R, Agarwal SS. Iniencephaly: a report of 19 cases.  Ind Pediatrics. 1998; 35: 891 - 896.

16.   Halder A, Pahi J, Sharma AK, Bhatia VL, Phadke RV, Gujral R & Agarwal SS. Osteodysplastic Primordial Dwarfism Type II with normal Mentation and delayed CNS Myelination. Am. J. Med. Genet. 1998; 80: 12-15.

17.   Pahi J, Phadke SR, Halder A, Agarwal SS, et al.  Does autopsy of antenataly diagnosed malformed fetuses aid genetic counseling? The National Medical Journal of India. 1998; 11(4): 120-121.

18.   Jauniaux E, Halder A, Partington C. A case of partial mole associated with trisomy 13. Ultrasound Obstet Gynaecol. 1998; 11(1): 62-64.

19.   Halder A & Park YK. Identification of the appropriate tissue from formalin fixed perinatal autopsy material for chromosomal ploidy detection by interphase FISH. Ind J Med Res. 1999; 110: 102-106.

20.   Phadke SR & Halder A. Fluorescent in situ hybridization: A novel method to study chromosomes and genes. Perinatology 2000; 2(4): 203-210.

21.   Halder A, Pahi J, Chadda V and Agarwal SS.  Sirenomelia Sequence associated with craniorachischisis totalis, limb reduction and primitive heart: a case report. Indian Pediatr. 2001; 38 (9): 1041-5.

22.   Halder A. Trisomy 21 beyond 1st trimester: are they all mosaic? Evidence to support. Asian J Obs & Gynae Practice, 2002; 6 (2): 30-34.

23.   Halder A, Agarwal S & Chaddha V. Genetic counseling in obstetric practice. Obstetrics & Gynecology Today 2002; VII (6): 310-318 (invited review).

24.   Chaddha V, Agarwal S, Phadke SR & Halder A (corresponding author). Low Level of Mosaicism in Atypical Prader Willi Syndrome: Detection using Fluorescent In Situ Hybridization. Indian Pediatrics 2003; 40: 166-168.

25.   Agarwal S, Chadda V, Ram Sharan and Halder A (corresponding author). Rapid prenatal diagnosis of trisomy 18 by interphase FISH. Asian Journal of Obs & Gynae Practice 2003; 7 (1): 1415 & 23.

26.   Pandey MK, Halder A, Agarwal S, Srivastava M, Agarwal SS, Agrawal S. Immunotherapy in Recurrent Spontaneous Abortion: Randomised and Nonrandomised trials. The Internet Journal of Gynaecology and Obstetrics 2003; 2(1): rsa/xml (13 pages).

27.   Halder A, Panigrahi I & Pal L. Fowler like syndrome with extreme oligohydramnios & growth restriction and without muscle hypoplasia: first case from Indian subcontinent. Ind Pediat 2003; 40: 418-423.

28.   Halder A, Chaddha V, Agarwal S, Fauzdar A. Absence of sperm meiotic segregation error of chromosomes 1, 9, 12, 13, 16, 18, 21, X and Y in a case of 100 % necrozoospermia. Asian J Androl. 2003 Jun; 5(2): 163-166.

29.   Nagpure NS, Kushwaha B, Srivastava SK, Halder A and Ponniah AG. Comparative chromosome painting in fish using human sex chromosome probes. Indian J Fishery 2003; 50: 103-106.

30.   Halder A, Halder S, Fauzdar A, Kumar A. Molecular approaches of chromosome analysis: an overview. Proc. Indian Nat. Sci. Acad. 2004; B70 (2): 153-221. Invited review

31.   Halder A, Agarwal S, Pandey A. Iniencephaly and Chromosome Mosaicism: A Report of Two Cases. Congenital Anomalies 2005; 45: 102-105.

32.   Halder A, Fauzdar A, Kumar A. Serum Inhibin B and Follicle Stimulating Hormone Levels as Markers in the Evaluation of Azoospermic Men: A Comparison. Andrologia 2005; 37: 173-179.

33.   Halder A, Fauzdar A, Kabra M and Saxena A. Detection of 22q11.2 hemizygous deletion by interphase FISH in a patient with features of CATCH22 Syndrome. Ind Pediatr. 2005; 42: 1236-1239.

34.   Halder A, Halder S, Fauzdar A. A Preliminary Investigation on Molecular Basis for Clinical Aggressiveness in Cervical Carcinoma by Comparative Genomic Hybridization and Conventional Fluorescent In-situ Hybridization. Indian J of Med Res. 2005; 122: 434-446.

35.   Halder A. Placental chimerism in early human pregnancy. Indian J of Human Genetics 2005; 11 (2): 84-88.

36.   Halder A and Fauzdar A. Extreme Skewing of Sex Ratio and Low Aneuploidy in Recurrent Early Missed Abortion. Ind J Med Res 2006; 124: 41-50.

37.   Halder A. Skewed Sex Ratio in India. Indian Journal of medical Research. 2006; 124: 583-584.

38.   Halder A, Fauzdar A. Potential use of blood, buccal and urine cells for rapid noninvasive diagnosis of suspected aneuploidy using FISH. Journal of Clinical & Diagnostic Research. 2007; 1 (2): 32-38.

39.   Halder A, Fauzdar A, Ghosh M, Kumar A. Serum Inhibin B: A Direct, Precise & Noninvasive Marker of Ovarian Function. Journal of Clinical & Diagnostic Research. 2007; 1(3): 131-137.

40.   Halder A. Nonimmunologic Hydrops Fetalis Associated with True Knot of Umbilical Cord: A Necropsy Study. J Turkish German Gynecol Assoc. 2007; 8(4): 420-423.

41.   Halder A. Unexplained Ten Consequetive Early Third Trimester Intrauterine Fetal Deaths: A Diagnostic Dilema. The Internet Journal of Gynecology and Obstetrics. 2007; Volume 7, Number 2. (IUD_0910.doc)

42.   Halder A. Premature Graying of Hairs, Premature Aging and Predisposition to Cancer in Jajjal, Punjab: A preliminary observation. Journal of Clinical & Diagnostic Research 2007; 6: 577-580.

43.   Halder A, Gupta RK. Male like external genitalia with epididymis in a case of 46,XX disorder of sex development due to  congenital adrenal hyperplasia. Journal of Research in Medical Sciences 2008; 13(3): 141-145.

44.   Halder A, Jain M, Kabra M, Gupta N. 22q11.2 Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases.  Molecular Cytogenetics 2008; 1: 18.

45.   Fauzdar A, Sharma RK, Kumar A, Halder A. A Preliminary Study on Chromosome Aneuploidy and Mosaicism in Early Preimplantation Human Embryo by Fluorescence In Situ Hybridization. IJMR 2008; 128 (3): 287-293

46.   Fauzdar A, Halder A, Kumar A. Effect of gonadotropins on chromosome aneuploidy, chromosome mosaicism and skewed sex ratio in mouse preimplantation embryos. IJMR 2009; 129: 669-675

47.   Yadav N, Sumod K, Kumar S, Jain M, Halder A, Saxena R, Mukhopadhyay A. Therapeutic effect of bone marrow-derived liver cells in phenotypic correction of murine hemophilia A. Blood; 2009 114: 4552-4561

48.   Shukla B, Agarwal S, Suri V, Pathak P, Sharma MC, Gupta D, Sharma BS, Suri A, Halder A, Sarkar C. Assessment of 1p/19q status by fluorescence in situ hybridization assay: A comparative study in oligodendroglial, mixed oligoastrocytic and astrocytic tumors. Neurol India 2009; 57: 559-566.

49.   Halder A.  Amniotic Band Syndrome and/or Limb Body Wall Complex: Split or Lump. The Application of Clinical Genetics 2010; 3: 7-15.

50.   Halder A.  46, XY Disorder of Sex Development with Mullerian Ducts Remnants. JCDR 2010; 4: 2169-2174.

51.   Halder A, Jain M, Chaudhary I, Kabra M. Prevalence of 22q11.2 microdeletion in 146 patients with cardiac malformation in a referral hospital of North India.  BMC Medical Genetics 2010; 11: 101.

52.   Halder A, Jain M, Chaudhary I and Varma B. Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size. Molecular Cytogenetics 2012; 5:13.

53.   Jain M, Halder A. Sertoli cell only syndrome: Status of sertoli cell maturation and function. Indian J Endocr Metab 2012; 16: S514-515.

54.   Halder A, Jain M, Chawdhary I, Kumar G, Das TK, Gupta YK. Dark Colored Semen in Non-obstructive Azoospermia: A Report of 4 Cases, Andrologia 2013 Feb 28. doi: 10.1111/and.12078

55.   Halder A, Jain M and Chaudhary I. Rapid Detection of Chromosome X, Y, 13, 18 & 21 Aneuploidies by Primed In Situ Labeling/Synthesis (PRINS) Technique. Ind J Hum Genet 2013 (2013 in press; ref no. IJHG_51_12)

56.   Jain M, Mohan V, Chaudhary I, Halder A. Sertoli cell only syndrome and glaucoma in a SRY positive XX infertile male. JCDR 2013 (2013 in press; Manuscript ID 5186)

57.   Halder A, Jain M, Chaudhary I, Gupta N and Kabra M. Fluorescence in-situ hybridization (FISH) using non-commercial probes in the diagnosis of clinically suspected microdeletion syndromes: an experience with 301 cases. IJMR 2013 (accepted for June 2013 Issue; ref no. IJMR_135_12)

 
Published Abstract (Indexed Only)

1.      Detection & analysis of fetal cells in TCC using FISH & PCR amplification of unique fetal DNA sequences. Delhanty JDA, Sherlock J, Tutschek B, Halder A, Rodeck CH, Adinolfi M. Am. J. Hum. Genet. 1995; 57(4): A32 (159).

2.      Collection of fetal cells from cervical canal during 1st trimester of pregnancy: Sampling technique, molecular analysis and isolation of purely fetal material. Tutschek B, Sherlock J, Halder A, et al. Europe. J Hum. Genet. 1996; 4(suppl.1): 20 (1.014).

3.      Prenatal diagnosis of 4 Chromosome anomalies from TCC. Sherlock J, Tutschek B, Halder A, et al. Europ.J. Hum. Genet. 1996; 4 suppl.10: 126 (9.026).

4.      Analysis of meiotic segregation in human nondecondensed interphase spermatozoa by multi color directs FISH. Halder A, Tutschek B. J Med Genet. 1996; 33 (suppl.1); S48 (12.001).

5.      A minimally invasive prenatal diagnosis technique for the collection of transcervical cells. Ruangvutilert P, Halder A, Sherlock J, Jauniaux E, Anenzo MP, Adinolfi M. Am J Hum Genet 1997; 61(4) supplement: Abst. No. 924, Page A 161.

6.      Rapid detection of ploidy in paraffin embedded formalin fixed tissue in perinatal autopsy material by interphase FISH: a search for the right tissue. Halder A & Park YK. Am J Hum Genet 1998; 63(4) supplement: abstract No. 871.

7.      Sex Chromosome chimerism in early pregnancy: a report of 3 cases. Halder A, Park YK, et al. Eu J Hum Genet 1999; 7: P251 (May, Suppl.)

8.      Is all Down syndrome cases mosaic? Evidence to support. Halder A, Park YK, et al. Cytogent Cell Genet 1999; 85: P633 (July, Suppl.).

9.      Extreme Skewing of Sex Ratio in Recurrent Early Missed Abortions. Halder A, Fauzdar A & Kumar A. In Abstract Book of the 12th World Congress on Human Reproduction (Venezia, March 10-13, 2005); Electronic Publication (www.humanrep2005.org)

10.   Halder A, Halder S, Fauzdar A. A Preliminary Investigation on Molecular Basis for Clinical Aggressiveness in Cervical Carcinoma by Comparative Genomic Hybridization and Conventional Fluorescent In-situ Hybridization. J of Cancer Research & Therapeutics 2006; 2: S15.

 
Books/Book Chapters/Monographs/Proceedings

1.      Halder A. Advances in Human Cytogenetics: an overview. In: Advances in Human Cytogenetics (CME Monograph Series II of National Academy of Medical Sciences of India). Editor: Halder A. 2002; pp.1-38.

2.      Halder A, Fauzdar A & Kumar A. Extreme Skewing of Sex Ratio in Recurrent Early Missed Abortions. In: Human Reproduction; Editors: Genazzani AR, Schenker J, Artini PG, Simoncini T; Publisher: CIC Edizioni Internazionali, Roma, 2005; vol. 2 pp. 69-73.

3.      Halder A, Fauzdar A & Kumar A. Do gonadotropins used for ovarian stimulation in assisted reproduction cause increase in chromosome aneuploidy, chromosome mosaicism and skewed sex ratio in embryos? In: Gonadal and Nongonadal Actions of Gonadotropins. Editor: Kumar A, Rao CV, Chaturvedi PK; Publisher: Narosa, New Delhi, 2010; vol. 1 pp.327-337.

4.      Halder A. Clinical & Molecular Cytogenetics. In: API text book of medicine Editor: YP Munjal), 9th edition. 2012, Vol.1, Ch 3. pp 180-188.

5.      Halder A & Manish Jain. Molecular Cytogenetics Manual. 2012

6.      Handbook on Medical Genetics and Genetic Counseling. Edited by RK Marwaha, I Panigrahi & A Halder. Noble Vision (Medical Book Publishers; ISBN No. 978-81-906227-4-5) First Edn. 2013.

7.      Halder A. Molecular cytogenetics. Chapter 26. In: Handbook on Medical Genetics and Genetic Counseling. Edited by RK Marwaha, I Panigrahi & A Halder. Noble Vision (Medical Book Publishers; ISBN No. 978-81-906227-4-5) First Edn. pp.181-186; 2013.

8.      Hosseini A & Halder A. Genornics and human genome project. Chapter 27. In: Handbook on Medical Genetics and Genetic Counseling. Edited by RK Marwaha, I Panigrahi & A Halder. Noble Vision (Medical Book Publishers; ISBN No. 978-81-906227-4-5) First Edn. pp.187-189; 2013

 
Miscelleneous

1.      Contribution in commercial syndrome data base computer software programme: London Dysmorphology Data Base, London, UK (LDDB) on Osteodysplastic Syndrome

2.      Contribution in commercial syndrome data base computer software program: Possum Database, Melbourne, Australia on Osteodysplastic Syndrome

3.      Contributed to London Dysmorphology & Neurogenetics Databases for its Ophthalmo-genetics or GENEEYE (latest addition) for its photographic library on Amniotic bands of early amnion rupture 
Molecular Cytogenetics Facility

In-Charge: Dr. Ashutosh Halder, Associate Professor (Teaching Block, Second Floor, Room No. 2099, 2090C)

Email:             ashutoshhalder@gmail.com

Tel:                 011-26594211                                                 Mobile:           09313309579

 

Test

Sample requirement

Approximate turnaround time

Cost

(Rs.)

Fluorescent In-Situ Hybridization (FISH)

 

Microdeletion FISH

1.  DiGeorge/Velocardiofacial/ 22q11.2 microdeletion syndrome

2.  Williams-Beuren syndrome

3.  Wolff-Hirschhorn syndrome

4.  Cri-du-chat syndrome

5.  CMT-1A/ HNPP

6.  Prader-Willi/Angelman Synd.

7.  ATR-16 syndrome

8.  APP (Alzheimer)

 

Aneuploidy FISH

(preimplantation, prenatal, postnatal & oncologic application)

Chromosome 1, 2, 3, 4, 6, 7, 8, 9, 10, 11, 12, 14/22, 15, 16, 17, 18, 20, 22, X, Y

 

Oncological FISH

RB1, cMYC, HER2, ABL, BCR, BCL2, IGH, PML1, RARA, ETO, AML1, MYH11, etc

 

Sex Chromosome FISH

Post bone marrow transplantation (sex mismatched): engraftment status

XX or XY disorder of sex development (Intersex)

 

SRY gene FISH

Intersex

 

1 ml Heparinized & 1 ml EDTA blood in sterile condition

 

Indefinite

As there is no technician/manpower for the service

Presently student & trainee are providing service

 

Free until manpower is available for time bound work

Sample Collection, Storage & Transportation

For FISH

1 ml Heparinized & 1 ml EDTA blood in sterile condition

Transport to laboratory within 24 hours

Storage temperature & transportation temperature (if more than 6 hours) preferably between 5-10 *C

Semen/mouth wash/urine samples are preferred to be collected on site (laboratory)

 

Research

PRINS (Primed In Situ Labeling)

  1. Rapid Aneuploidy Diagnosis (Chromosome X,Y,13, 18 & 21)

 

FISH

  1. XY FISH for Gonosomal Mosaicism
  2. Yq microdeletion by STS (multiplex PCR based)
  3. Preimplantation Genetic Diagnosis (Chromosome 1, 9, 16, 18, X, Y for Human and Chromosome X, Y, 19, 1 for Mouse

 

Research & On Request

FISH with following clones from the BAC/PAC/YAC/Plasmid Library (vide table below)


 

BAC/PAC/YAC/ Plasmid Library (On Request and/or Research Work)

Alphoid/Repetitive Sequence

SN

Chromosome

Probe Type

Site

Clone type

01

X

Alphoid

Centromere

Plasmid

02

Y

Alphoid

Centromere

Plasmid

03

Y

Heterochromatic

qh

Plasmid

04

Y

pLAY113.5 (repetitive)

q12

Plasmid

05

1

Heterochroma

qh

Plasmid

06

2

Alphoid

Centromere

Plasmid

07

3

Alphoid

Centromere

Plasmid

08

4

Alphoid

Centromere

Plasmid

09

6

Alphoid

Centromere

Plasmid

10

7

Alphoid

Centromere

Plasmid

11

8

Alphoid

Centromere

Plasmid

12

9

Heterochroma.

qh

Plasmid

13

10

Alphoid

Centromere

Plasmid

15

11

Alphoid

Centromere

Plasmid

16

12

Alphoid

Centromere

Plasmid

17

14/22

Alphoid

Centromere

Plasmid

18

15

Alphoid

Centromere

Plasmid

19

16

Alphoid

Centromere

Plasmid

20

17

Alphoid

Centromere

Plasmid

21

18

Alphoid

Centromere

Plasmid

22

20

Alphoid

Centromere

Plasmid

23

21

Alphoid

Centromere

Plasmid

24

22

Alphoid

Centromere

Plasmid

25

NOR

Alphoid

Satellite

PAC

26

Pz/NOR

NOR regions (repeat seq)

Satellite

PAC

Locus Specific

1

1p36

Locus Sp.

RP11-199O1

BAC

2

1p36.12

,,

RP5-1057J7

PAC

3

1p36.13

Locus Sp.

RP11-99C7

BAC

4

1p36.21

,,

RP11-265F14

BAC

5

1p36.22

..

RP11-420G9

BAC

6

1P36.31

Locus Sp.

RP11-239H20

 

7

1p36.32

,,

RP11-447M5

BAC

8

1p36.33

Locus Sp.

bA421C4

BAC

9

1p36.33

,,

RP5-902P8

PAC

10

2p24.3-p24.2

Locus Sp.

RP11-829H24

BAC

11

2p24.3

Locus Sp.

RP11-333O1

BAC

12

2p24.3

,,

bA375P12

BAC

13

3p25.1

,,

bA279L16

BAC

14

3q29

,,

bA778E2

BAC

15

5p15.33

,,

RP11-811I15

BAC

16

5p15.33

,,

RP11-24P24

BAC

17

5p15.1

,,

RP11-88L18

BAC

18

5p15.1

,,

RP11-269O14

BAC

19

5p15.2

,,

RP11-72C10

BAC

21

7p12.3

,,

RP11-653O17

BAC

22

7p12.1

,,

RP11-324M21

BAC

23

7q31.1

,,

bA393L14

BAC

24

8p22

,,

RP11-776K3

BAC

25

8q22

,,

ETO

BAC

26

8q24.13

,,

RP11-550A5

BAC

27

8q24.12

,,

RP11-318N11

BAC

28

8q24.21

,,

CMYC

BAC

29

8Q24.22

,,

RP11-15L5

BAC

30

8q24.23

,,

bA21D15

BAC

31

9p21.1

,,

RP11-48L13

BAC

32

9p21.1

,,

RP11-562M8

BAC

33

9p21.1

,,

RP11-255N24

BAC

34

9p21.3

,,

RP11-336O12

BAC

35

9p21.3

,,

RP11-536F2

BAC

36

9p21.1

,,

RP11-255N24

BAC

37

9p21.1

,,

bA573M23

BAC

38

9q34

ABL1

dj1132H12

BAC

39

9q34.11

Locus Sp.

RP11-57C19

BAC

40

9q34.12

,,

ABL1

BAC

41

9q34.3

,,

bA417A4

BAC

42

10q23.2

,,

RP11-396M20

BAC

43

11q22.3

,,

RP11-563P16

BAC

44

11q25

,,

bA209L12

BAC

45

12q13.12

,,

RP11-60E8

BAC

46

12q24.33

,,

bA112B19

BAC

47

13q14.2

Locus Sp. RB1

RP11-34F20

YAC, BAC

48

13q14.11

,,

RP11-168P13

BAC

49

13q14.12

,,

RP11-540M5

BAC

50

13q14.13

,,

RP11-154C3

BAC

51

13q14.3

,,

RP11-831J9

BAC

52

13q14.3

,,

RP11-172A19

BAC

53

14q32.2

,,

RP11-431B1

BAC

54

15q24.1

PML1

dj833D9

BAC

55

17P13.1

,,

RP11-599B13

BAC

56

17q11.2

,,

RP11-521P1

BAC

57

17q12

,,

RP11-451O3

BAC

58

17q12

Locus Sp.

ERBB2

BAC

59

17q12

,,

MLLT6

BAC

60

17q21.2

RARA

dj933I18

BAC

61

19q13.2

Locus Sp.

RP11-67A5

BAC

62

20p12.2

Locus Sp.

dj1098F8

BAC

63

20q12

,,

RP1-81G23

 

64

21

,,

Down Synd.

YAC

65

21

,,

ERG

BAC

66

21q21.3

,,

RP11-14D13

BAC

67

21q22

AML1

dj1107L6

BAC

68

22q11.23

DG/VCF Synd

RP5-930L11

PAC

69

22q11.21

DG/VCF Synd

CTA-154H4

BAC

70

22q11.23

DG/VCF Synd

CTA-322B1

BAC

71

22q11.22

DG/VCF Synd

RP11-22M5

BAC

72

22q11.2

DG/VCF Synd

 

BAC

73

22q12.1-q12.2

Locus Sp.

RP11-945M21

BAC

74

22q13.1

Locus Sp.

RP11-455G13

BAC

75

22q13.32

Locus Sp.

RP5-925J7

PAC

76

Xp22.11

,,

RP11-40P7

BAC

77

Xp22.11

,,

RP5-1129A6

PAC

76

Xp22.12

,,

RP11-450P7

BAC

79

Xp22.22

,,

RP11-450G14

BAC

80

Xp22.31

Locus Sp.

bA483M24

BAC

81

Xp22.31

,,

RP11-143E20

BAC

82

Xp22.32

,,

RP11-615L18

BAC

83

Xp22.33

,,

RP11-172A6

BAC

84

Xp22.33

 

RP11-131H1

BAC

85

Xq12

,,

RP4-808O4

 

86

Xq28

,,

db228I21

BAC

87

Yp11.2

,,

bA115J5

BAC

88

Yp11.2

,,

bA145J112

BAC

89

Yp11.31

,,

bA115E20

BAC

90

Yp12

,,

RP11-115E20

BAC

91

Yq11.221

,,

bA224C16

BAC

92

Yq11.223

,,

bA256K9

BAC

93

Yq11.23

AZFb/AZFc

bA270H4

BAC

94

Yq12

 

 

 

Microdeletion & Microduplication Syndrome

1

4p

Wolff Hischhorn

860 A13

BAC

2

5p

Cri-du-chat

RP5-982O4

PAC

3

5q35.1

Soto Region

RP11-117L6

BAC

4

5q35.3

Soto Region

RP11305G6

BAC

5

7q11.23

William

RP5-1127A24

PAC

6

7q11.23 (16/6/08)

William

RP11-99J9

BAC

7

7q11.23 (15/5/08)

William

RP11-99J9

BAC

8

7q11.23

William

RP11-229D3

BAC

9

7q11.23

William

RP5-1090E20

PAC

10

7q11.23

William

RP5-1177A1

PAC

11

8q24.13

TRPS II

RP11-1082L8

BAC

12

15q11.2

PWS/AS

RP11-20B10

BAC

13

15q11.2

PWS/AS

RP11-26F2

BAC

14

15q12

PWS/AS

RP11-20B10

BAC

15

15q13.1

PWS/AS

RP11-37J13

BAC

16

15q13.3

PWS/AS

RP11-456J20

BAC

17

16p13.3

ATR-16

DJ471F17

PAC

18

17p11.2

CMT-1A/ HNPP

RP5-1004H15

PAC

19

17p11.2

Smith-Magenis

RP11-73L16

BAC

20

17p13.3

Miller-Dieker Syndrome

RP11-235E17

BAC

21

17p13.3  (16/6/08)

Miller-Dieker Syndrome

RP11-22G12

BAC

22

17p13.3 (15/5/08)

Miller-Dieker Syndrome

RP11-22G12

BAC

23

17p13.3

Miller-Dieker Syndrome

RP5-1029F21

PAC

24

21q21.3

Alzhemier

RP11-14D13

BAC

25

22q11.2

DiGeorge

dj882J5

PAC

26

Yp11.31 (Xp faint)

SRY

RP11-400O10

BAC

Chromosome Paints

1

Y

Paint

Whole

Flow sorted

2

X

Paint

Whole

Flow sorted

3

Yq

Paint

Partial

Micro dissect.

4

Xq

Paint

Partial

Micro dissect.

5

Xp

Paint

Partial

Micro dissect.

Mouse Clones

SN

Chromosome

Clone type

Site

1

19

PAC

RP21-607E15

2

X

PAC

RP21-480L23

3

1

PAC

RP21-480G1

4

1-19

alphoid

Pancentromere

5

Y

Hetrochromatic

M34 clone

6

19

BAC

Centromere

7

19

BAC

Telomere

8

X

BAC

Centromere

9

X

BAC

Telomere

10

X

BAC

Centromere