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A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review.

Abstract：

:We report on a 3-year-old girl with psychomotor retardation, cardiopathy, strabismus, umbilical hernia, and facial dysmorphism in whom a de novo unbalanced submicroscopic translocation (10p;18q) was found by MLPA (Multiplex Ligation dependent Probe Amplification) and FISH analyses. Additional FISH studies with locus specific RP11 BAC probes and analyses with microsatellites revealed that the translocation resulted in a deletion estimated between 6 and 9 Mb on the maternal chromosome 18 and a subtelomeric 10p duplication of approximately 6.9 Mb. The proband's karyotype is 46,XX.ish der(18) t(10;18)(18pter-->18q23:10p15 --> 10pter). A subterminal duplication of 10p, as well as a subterminal deletion of 18q have been rarely reported so far. The clinical phenotype of this patient is reviewed and discussed.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Courtens W,Wuyts W,Scheers S,Van Luijk R,Reyniers E,Rooms L,Ceulemans B,Kooy F,Wauters J

doi

10.1016/j.ejmg.2006.01.001

keywords:

subject

Has Abstract

pub_date

2006-09-01 00:00:00

pages

402-13

issue

5

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(06)00002-4

journal_volume

49

pub_type

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