Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation

ABSTRACT: We describe an 18-month-old male (BAB7221)with split-hand malformation. Custom high-density array and digital droplet PCR revealed the copy-number gains were actually quadruplications in the mother (BAB7219), the fetus (BAB7218) and her later born son (BAB7221). This quadruplication-normal-quadruplication pattern was shown to be expanded from the triplication-normal-triplication CNV at the same loci in the maternal grandmother (BAB8247). High density custom aCGH detecting all 6 individuals in the family

ORGANISM(S): Homo sapiens

SUBMITTER: Shen Gu 

PROVIDER: E-GEOD-75190 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation.

Gu Shen S   Posey Jennifer E JE   Yuan Bo B   Carvalho Claudia M B CM   Luk H M HM   Erikson Kelly K   Lo Ivan F M IF   Leung Gordon K C GK   Pickering Curtis R CR   Chung Brian H Y BH   Lupski James R JR  

Human mutation 20151202 2

Germline copy-number variants (CNVs) involving quadruplications are rare and the mechanisms generating them are largely unknown. Previously, we reported a 20-week gestation fetus with split-hand malformation; clinical microarray detected two maternally inherited triplications separated by a copy-number neutral region at 17p13.3, involving BHLHA9 and part of YWHAE. Here, we describe an 18-month-old male sibling of the previously described fetus with split-hand malformation. Custom high-density mi  ...[more]

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