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Monosomy and trisomy of 15q24→qter in a family with a translocation t(6;15)(P25;q24)
Author(s) -
Kristoffersson Ulf,
Heim Sverre,
Mandahl Nils,
Sundkvist Lennart,
Szelest Jan,
Hägerstrand Inga
Publication year - 1987
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.1399-0004.1987.tb03348.x
Subject(s) - monosomy , chromosomal translocation , trisomy , diaphragmatic hernia , prenatal diagnosis , hypoplasia , aneuploidy , down syndrome , congenital diaphragmatic hernia , fetus , genetics , biology , karyotype , hernia , pediatrics , pathology , chromosome , pregnancy , anatomy , medicine , radiology , gene
A child with multiple anomalies, including growth retardation, a left‐sided diaphragmatic hernia with lung hypoplasia, and cerebral malformations is described. Cytogenetic investigation demonstrated a deletion of the distal part of one chromosome 15, del(15)(q24qter), an aberration not previously described. Family studies revealed that the mother had a balanced translocation, t(6;15)(p25;q24). Two of her subsequent pregnancies resulted in abortions after prenatal diagnosis: one fetus was trisomic for 15q24→qter, while the other had monosomy 15q24→qter and a left‐sided diaphragmatic hernia similar to the first child.