Prenatal diagnosis of mosaic small supernumerary marker chromosome 17 associated with ventricular septal defect, developmental delay, and speech delay

Chen, Chih‐Ping; Chiang, Sheng; Wang, Kung-Liahng; Cho, Fu-Nan; Chen, Ming; Chern, Schu‐Rern; Wu, Peih-Shan; Chen, Yen-Ni; Chen, Shin-Wen; Chang, Shun‐Ping; Chen, Weu-Lin; Wang, Wayseen

doi:10.1016/j.tjog.2016.05.002

Cited by 2 publications

(1 citation statement)

References 11 publications

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“…The presence of sSMC 17 encompassing only the pericentric regions appears to be associated predominantly with developmental delay and in some cases with intellectual disability, meanwhile patients with sSMC 17 of larger parts of either the short or the long arm of chromosome 17 have additional dysmorphic features [11]. The duplicated genomic region of the present case is the most comparable to that of Chen et al [15], although our proband’s heart examination did not reveal any abnormalities. Both cases manifested with developmental delay and speech delay, despite the fact that sSMC 17 in the Chen et al case was in a mosaic form.…”

Section: Discussionsupporting

confidence: 63%

Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features

et al. 2017

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BackgroundThe majority of small supernumerary marker chromosome cases arise de novo and their frequency in newborns is 0.04%. We report on a girl with developmental delay and dysmorphic features with a non-mosaic de novo sSMC that originated from the pericentric region of q arm in chromosome 17.Case presentationThe girl presented with developmental delay, speech delay, myopia, mild muscle hypotonia, hypoplasia of orbicular muscle, poor concentration, and hyperactivity. Main dysmorphic features included: round face, microstomia, small chin, down-slanting palpebral fissures and small lobules of both ears. At present, her developmental abilities are still delayed for her chronological age but she is making evident progress with speech.A postnatal array comparative genomic hybridization showed a 2.31 Mb genomic gain indicating microduplication derived from pericentric regions q11.1 and q11.2 of chromosome 17. Additional conventional cytogenetic analysis from peripheral blood characterized the karyotype as 47,XX,+mar in a non-mosaic form. The location of microduplication was confirmed with fluorescence in situ hybridization.ConclusionThe proband’s microduplication encompassed approximately 40 annotated genes, several of which have been associated with phenotypic characteristics of the proband. This is the first report of sSMC 17 including this particular chromosomal region in non-mosaic form.

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Section: Discussionsupporting

confidence: 63%

Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features

et al. 2017

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Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 11

Chen

Wang

et al. 2017

Taiwanese Journal of Obstetrics and Gynecology

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Prenatal diagnosis of mosaic small supernumerary marker chromosome 17 associated with ventricular septal defect, developmental delay, and speech delay

Abstract: aCGH is useful in the precise measurement of the involved size of the euchromatic material and the associated genes in prenatally detected sSMC.

Cited by 2 publications

References 11 publications

Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features

Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 11

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