Three cases of dup(10p)/del(10q) syndrome resulting from maternal pericentric inversion.
Two families and 3 patients with dup(10p)/del(10q) syndrome segregating from a maternal pericentric inversion are described, including a stillborn female with Potter sequence and multicystic renal dysplasia. Comparison of 32 dup(10p) patients to 11 del(10)(q25) patients emphasized dolichocephaly, wide sutures, frontal bossing, micrognathia, and renal defects as distinguishing characteristics of the dup(10p) syndrome. The 3 new and 6 previously reported dup(10p)/del(10q) patients had several manifestations in common with the dup(10p) and del(10q) syndromes, but were more typical of dup(10p) syndrome with respect to all 5 distinguishing characters.
Kulharya
A S
AS
Department of Pathology, University of Texas Southwestern Medical Center, Dallas 75235-9063.
Schneider
N R
NR
Wilson
G N
GN
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D007446:Chromosome Inversion; D002879:Chromosomes, Human, Pair 10; D005260:Female; D005313:Fetal Death; D017353:Gene Deletion; D015321:Gene Rearrangement; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D007690:Polycystic Kidney Diseases / Q000235:genetics; D013577:Syndrome; D014178:Translocation, Genetic