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Multiple congenital malformations in an infant prenatally diagnosed with mosaicism for dup(1q) and del(Xq)
Author(s) -
Wells Steven R.,
Kuller Jeffrey A.,
Rao Kathleen W.,
Aylsworth Arthur S.
Publication year - 1996
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1996.tb03290.x
Subject(s) - dup , pediatrics , medicine , genetics , biology , gene duplication , gene
After ultrasound diagnosis of a fetus with severe hydrocephalus and Dandy‐Walker malformation, amniocentesis revealed chromosomal mosaicism for dup(1q) and del(Xq). The neonate had dysmorphic facial features, vertebral abnormalities, and pulmonary hypoplasia, and expired shortly after birth. This report confirms the poor prognosis reported for partial trisomies involving the long arm of chromosome number 1.