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A de novo 8q22.2-24.3 duplication in a patient with mild phenotype.

Abstract：

:We report a new case of 8q interstitial duplication in a patient with dysmorphic features, umbilical hernia, cryptorchidism, short stature, congenital heart defect and mild mental retardation (MR). Chromosome analysis with high resolution QFQ bands showed 46,XY, 8q+, which was interpreted as a partial duplication of the distal long arm of chromosome 8 (q22 → qter). This chromosomal aberration was further characterized using fluorescence in situ hybridization (FISH) analyses with multiple DNA probes and array-CGH (Comparative Genomic Hybridization) experiment which demonstrated a de novo direct duplication (8)(q22.2-q24.3). We have compared this case with other partially trisomic 8q patients reported in literature and highlighted the common clinical features in 8q22-8q24 duplication syndrome.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Concolino D,Iembo MA,Moricca MT,Rapsomaniki M,Marotta R,Galesi O,Fichera M,Romano C,Strisciuglio P

doi

10.1016/j.ejmg.2011.09.001

subject

Has Abstract

pub_date

2012-01-01 00:00:00

pages

67-70

issue

1

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(11)00112-1

journal_volume

55

pub_type

杂志文章

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