Identification of critical regions for clinical features of distal 10q deletion syndrome

Clinical Genetics

Volumn 76, Issue 1, 2009, Pages 54-62

  Yatsenko, S A ^a   Kruer, M C ^b,c   Bader, P I ^d   Corzo, D ^e   Schuette, J ^f   Keegan, C E ^f   Nowakowska, B ^g   Peacock, S ^a   Cai, W W ^a   Peiffer, D A ^h   Gunderson, K L ^h   Ou, Z ^a   Chinault, A C ^a   Cheung, Sau W ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b PHOENIX CHILDREN'S HOSPITAL   (United States)

^c MARICOPA MEDICAL CENTER   (United States)

^d Parkview Hospital   (United States)

^e BOSTON CHILDREN S HOSPITAL   (United States)

^f UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^g INSTITUTE OF MOTHER AND CHILD   (Poland)

^h ILLUMINA INC   (United States)

Author keywords

Array comparative genomic hybridization; Chromosome rearrangement; Critical region; Deletion 10q; DOCK1 gene; Genotype phenotype correlation

Indexed keywords

ADULT; ANXIETY DISORDER; ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; BODY DYSMORPHIC DISORDER; CHILD; CHROMOSOME 10Q; CHROMOSOME BANDING PATTERN; CHROMOSOME DELETION; CLINICAL ARTICLE; CLINODACTYLY; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART DISEASE; CONGENITAL HIP DISLOCATION; DEVELOPMENTAL DISORDER; EAR MALFORMATION; ECHOGRAPHY; FACE MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE IDENTIFICATION; HUMAN; INFANT; KARYOTYPE; MALE; MICROCEPHALY; MUSCLE HYPOTONIA; NEWBORN; PATHOGENESIS; PERCEPTION DEAFNESS; PHENOTYPE; PINEAL BODY TUMOR; PRIORITY JOURNAL; SIGNAL TRANSDUCTION;

ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 10; FEMALE; HUMANS; INFANT, NEWBORN; KARYOTYPING; MALE; SYNDROME;

EID: 67650908148     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01115.x     Document Type: Article

References (29)

1. Irving M, Hanson H, Turnpenny P et al. Deletion of the distal long arm of chromosome 10: Is there a characteristic phenotype? A report of 15 de novo and familial cases. Am J Med Genet A 2003: 123: 153-163.
2. Kehrer-Sawatzki H, Daumiller E, Muller-Navia J et al. Interstitial deletion del(10)(q25.2q25.3 approximately 26.11) - case report and review of the literature. Prenat Diagn 2005: 25: 954-959.
3. Rooney DE, Williams K, Coleman DV et al. A case of interstitial deletion of 10q25.2-q26.1. J Med Genet 1989: 26: 58-60.
4. Waggoner DJ, Chow CK, Dowton SB et al. Partial monosomy of distal 10q: three new cases and a review. Am J Med Genet 1999: 86: 1-5.
5. McCandless SE, Schwartz S, Morrison S et al. Adult with an interstitial deletion of chromosome 10 [del(10)(q25.1q25.3)]: Overlap with Coffin-Lowry syndrome. Am J Med Genet 2000: 95: 93-98.
6. Mulcahy MT, Pemberton PJ, Thompson E et al. Is there a monosomy 10qter syndrome? Clin Genet 1982: 21: 33-35.
7. Shapiro SD, Hansen KL, Pasztor LM et al. Deletions of the long arm of chromosome 10. Am J Med Genet 1985: 20: 181-196.
8. Gorinati M, Zamboni G, Padoin N et al. Terminal deletion of the long arm of chromosome 10: Case report and review of the literature. Am J Med Genet 1989: 33: 502-504.
9. Wulfsberg EA, Weaver RP, Cunniff CM et al. Chromosome 10qter deletion syndrome: A review and report of three new cases. Am J Med Genet 1989: 32: 364-367.
10. Schrander-Stumpel C, Fryns JP, Hamers G et al. The partial monosomy 10q syndrome: Report on two patients and review of the developmental data. J Ment Defic Res 1991: 135: 259-267.
11. Petit P, Devriendt K, Azou M et al. Terminal deletion of chromosome 10q26: Delineation of two clinical phenotypes. Genet Couns 1998: 9: 271-275.
12. Narahara K, Baker E, Ito S et al. Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease. J Med Genet 1997: 34: 213-216.
13. Ogata T, Muroya K, Sasagawa I et al. Genetic evidence for a novel gene(s) involved in urogenital development on 10q26. Kidney Int 2000: 58: 2281-2290.
14. Cheung SW, Shaw CA, Yu W et al. Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med 2005: 7: 422-432.
15. Lu X, Shaw CA, Patel A et al. Clinical implementation of chromosomal microarray analysis: Summary of 2513 postnatal cases. PLoS ONE 2007: 2: e327.
16. Steemers FJ, Chang W, Lee G et al. Whole-genome genotyping with the single-base extension assay. Nat Methods 2006: 3: 31-33.
17. Peiffer DA, Le JM, Steemers FJ et al. High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. Genome Res 2006: 16: 1136-1148.
18. Cai WW, Mao JH, Chow CW et al. Genome-wide detection of chromosomal imbalances in tumors using BAC microarrays. Nat Biotechnol 2002: 20: 393-396.
19. Li J, Jiang T, Bejjani B et al. High-resolution human genome scanning using whole-genome BAC arrays. Cold Spring Harb Symp Quant Biol 2003: 68: 323-329.
20. Probst FJ, Roeder ER, Enciso VB et al. Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. Am J Med Genet A 2007: 43A: 1358-1365.
21. De Gregori M, Ciccone R, Magini P et al. Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: A study of 59 patients. J Med Genet 2007: 44: 750-762.
22. Higgins AW, Alkuraya FS, Bosco AF et al. Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet 2008: 82: 712-722.
23. Courtens W, Wuyts W, Rooms L, Pera SB, Wauters J. A subterminal deletion of the long arm of chromosome 10: A clinical report and review. Am J Med Genet A 2006: 140: 402-409.
24. Chen CP, Chern SR, Wang TH et al. Prenatal diagnosis and molecular cytogenetic analysis of partial monosomy 10q (10q25.3->qter) and partial trisomy 18q (18q23->qter) in a fetus associated with cystic hygroma and ambiguous genitalia. Prenat Diagn 2005: 25: 492-496.
25. Wilkie AO, Campbell FM, Daubeney P et al. Complete and partial XY sex reversal associated with terminal deletion of 10q: Report of 2 cases and literature review. Am J Med Genet 1993: 46: 597-600.
26. Chung YP, Hwa HL, Tseng LH et al. Prenatal diagnosis of monosomy 10q25 associated with single umbilical artery and sex reversal: Report of a case. Prenat Diagn 1998: 18: 73-77.
27. Miyamoto N, Yoshida M, Kuratani S et al. Defects of urogenital development in mice lacking Emx2. Development 1997: 124: 1653-1664.
28. Cichon S, Schmidt-Wolf G, Schumacher J et al. A possible susceptibility locus for bipolar affective disorder in chromosomal region 10q25-q26. Mol Psychiatry 2001: 16: 342-349.
29. Laurin N, Misener VL, Crosbie J et al. Association of the calcyon gene (DRD1IP) with attention deficit/hyperactivity disorder. Mol Psychiatry 2005: 10: 1117-1125.