Monosomy and trisomy of 15q24----qter in a family with a translocation t(6;15)(p25;q24).
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.
D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D002896:Chromosomes, Human, Pair 6; D006548:Hernia, Diaphragmatic / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D014178:Translocation, Genetic; D014314:Trisomy