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Prenatal diagnosis and molecular characterization of an interstitial 1q24.2q25.2 deletion.

Abstract：

:We report on the observation of an interstitial deletion of the long arm of chromosome 1 diagnosed prenatally in a 28 weeks gestation fetus by standard karyotype. Amniocentesis was performed because of an increased Down syndrome maternal serum screening and ultrasonographic abnormalities. Fetus autopsy showed an intrauterine growth retardation, dysmorphic features and limbs abnormalities. Using fluorescent in situ hybridization technique (FISH), we characterized the deletion boundaries corresponding to the bacterial artificial chromosomes (BAC) RP11-193J5 and RP11-162L13. Molecular studies identified the deletion of paternal origin. Therefore the karyotype was interpreted as 46,XY,del(1)(q24.2q25.2). This is the smallest deletion of the long arm of chromosome 1 reported prenatally and characterized at the molecular level. Its phenotype is compared to other similar cases described in the literature.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Chaabouni M,Martinovic J,Sanlaville D,Attié-Bittach T,Caillat S,Turleau C,Vekemans M,Morichon N

doi

10.1016/j.ejmg.2006.03.004

subject

Has Abstract

pub_date

2006-11-01 00:00:00

pages

487-93

issue

6

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(06)00045-0

journal_volume

49

pub_type

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