Prenatal diagnosis of partial trisomy 1q and monosomy X in a fetus with a congenital lung lesion and hydrops fetalis | Zendy

Pressey Tracy L. | Zendy; Wilson R. Douglas | Zendy; Kasperski Stefanie | Zendy; Bebbington Michael W. | Zendy; Adzick N. Scott | Zendy

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Prenatal diagnosis of partial trisomy 1q and monosomy X in a fetus with a congenital lung lesion and hydrops fetalis

Author(s) -

Pressey Tracy L.,

Wilson R. Douglas,

Kasperski Stefanie,

Bebbington Michael W.,

Adzick N. Scott

Publication year - 2007

Publication title -

american journal of medical genetics part a

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.064

H-Index - 112

eISSN - 1552-4833

pISSN - 1552-4825

DOI - 10.1002/ajmg.a.31707

Subject(s) - hydrops fetalis , monosomy , trisomy , fetus , prenatal diagnosis , medicine , lesion , lung , pathology , chromosomal translocation , pregnancy , karyotype , biology , chromosome , genetics , gene

We report on the prenatal diagnosis of partial trisomy 1q and monosomy X in a fetus with a congenital lung lesion and hydrops. The finding of hydrops in a fetus with a small lung lesion, congenital cystic adenomatoid malformation (CCAM) volume to head circumference ratio (CVR) 0.78, prompted cytogenetic analysis of amniotic fluid, revealing an unbalanced translocation between chromosomes X and 1 [46,X,der(X)t(X;1)(p11.2;q25 or q31)]. The incidence of chromosomal abnormalities with CCAM lesions is estimated at 1.6%. This is the first reported case of prenatally diagnosed partial trisomy 1q and monosomy X presenting as a fetal lung lesion and hydrops. © 2007 Wiley‐Liss, Inc.

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