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Neonatal death in cousins with trisomy 10q and monosomy 4p due to a familial translocation
Author(s) -
Pauli Richard M.,
Kirkpatrick Susan J.,
Meisner Lorraine F.,
Mijanovich James R.,
Spritz Richard A.
Publication year - 1982
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.1399-0004.1982.tb01850.x
Subject(s) - monosomy , chromosomal translocation , trisomy , genetics , biology , craniofacial , chromosomal rearrangement , phenotype , chromosome , karyotype , gene
Two cousins with trisomy for a part of the long arm of chromosome 10 and monosomy for the distal portion of the short arm of chromosome 4 are reported. These infants had severe, neonatally lethal, multiple malformations. Certain of these malformations ‐ including severe lower limb reductions, marked ophthalmologic anomalies and certain craniofacial features ‐ are inconsistent with either a simple additive effect of the two component chromosomal anomalies, or chromosomal “epistasis” that would result in observing the phenotypic effect of only one of the chromosomal aberrations. Rather a synergistic effect of these two karyotypic anomalies has resulted in unique phenotypic features.