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Recombination aneusomy of chromosome 5 associated with multiple severe congenital malformations
Author(s) -
Schroeder H. W.,
Forbes S.,
Mack L.,
Davis S.,
Norwood T. H.
Publication year - 1986
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.1399-0004.1986.tb00608.x
Subject(s) - holoprosencephaly , monosomy , chromosomal inversion , tetralogy of fallot , agenesis , dup , trisomy , biology , autopsy , genetics , chromosome , medicine , fetus , heart disease , karyotype , pregnancy , gene duplication , gene
A male infant is described in whom congenital anomalies were recognized prenatally by ultrasound examination. The infant was delivered following spontaneous labor and died approximately 15 min after birth. An autopsy revealed major anomalies in the central nervous system (holoprosencephaly with premaxillary agenesis), the gastrointestinal system (esophageal atresia) and the heart (tetralogy of Fallot). Chromosomal studies revealed recombinant chromosome 5[46, XY, rec(5), dup q, inv(5)(p15q32)], resulting in partial trisomy 5q and partial monosomy 5p. Cytogenetic investigation of the family revealed a pericentric inversion of chromosome 5 in the father and paternal grandmother,46, XY (and XX, respectively,) inv(5)(p15q32). The congenital anomalies in this infant are more extensive and severe than previously reported in cases of recombination aneusomy involving chromosome 5.