Monosomy 11q: report of two familial cases and review of the literature.
We present four children from two families with the typical 11q- phenotype resulting from an unbalanced segregation of a parental translocation. In the first family, the father had a 46,XY,t(5;11)(q24;q23.3) constitution. The father of the three other children had a 46,XY,t(11;17)(q23;p13) translocation. Despite associated partial deletion, three of the children had a typical 11q- phenotype. The fourth one, whose pregnancy was terminated in the second trimester, had a hypoplastic left heart but no other considered gross anomalies. A review of 36 previous cases, including 5 due to translocations (4 familial rearrangements, and 1 of unknown origin) is given with emphasis on the relationships between break-points and phenotype. Undescribed manifestations in our patients include agenesis of corpus callosum adactyly and malrotation of the gut.
Hustinx
R
R
Centre for Human Genetics, Liège University, Belgium.
Verloes
A
A
Grattagliano
B
B
Herens
C
C
Jamar
M
M
Soyeur
D
D
Schaaps
J P
JP
Koulischer
L
L
D000015:Abnormalities, Multiple / Q000196:embryology / Q000235:genetics*; D001921:Brain / Q000002:abnormalities; D002869:Chromosome Aberrations / Q000196:embryology / Q000235:genetics* / Q000473:pathology; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002880:Chromosomes, Human, Pair 11 / Q000648:ultrastructure; D005260:Female; D005313:Fetal Death / Q000235:genetics; D005315:Fetal Diseases / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014178:Translocation, Genetic