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