Prenatal and postnatal findings in a 10.6 Mb interstitial deletion at 10p11.22-p12.31

Interstitial deletion of the proximal short arm of chromosome 10 represents a rare genetic alteration. Literature review revealed that only 10 postnatal diagnosed clinical cases with deletions overlapping 10p12p11 were published until present. We report the first prenatal diagnosis and postnatal fin...

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Veröffentlicht in:	Journal of human genetics 2015-04, Vol.60 (4), p.183-185
Hauptverfasser:	Sosoi, Simona, Streata, Ioana, Tudorache, Stefania, Burada, Florin, Siminel, Mirela, Cernea, Nicolae, Ioana, Mihai, Iliescu, Dominic Gabriel, Mixich, Francisc
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Adult Chromosome 10 Chromosome Deletion Chromosomes, Human, Pair 10 Comparative Genomic Hybridization Female Fetuses Genome-Wide Association Study Humans Infant, Newborn Literature reviews Male Phenotype Pregnancy Prenatal Diagnosis Ultrasonography, Prenatal
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Beschreibung
Zusammenfassung:	Interstitial deletion of the proximal short arm of chromosome 10 represents a rare genetic alteration. Literature review revealed that only 10 postnatal diagnosed clinical cases with deletions overlapping 10p12p11 were published until present. We report the first prenatal diagnosis and postnatal findings in a male fetus with a 10.6 Mb interstitial deletion of the short arm of chromosome 10 (10p11.22-p12.31).
ISSN:	1434-5161 1435-232X
DOI:	10.1038/jhg.2015.4