Multiple cases of trisomy 9p/distal monosomy 18p in a family due to inherited translocation t (9:18).
A case of trisomy 9p/monosomy 18p in four members of a family is described. The mechanism of meiotic segregation is discussed in the sibs' mothers who are carriers of a balanced translocation t(9:18) (p 11.2; p 11.3). The phenotype is typical for this chromosome abnormality.
Valkova
G
G
Center of Medicogenetic Counselling, Medical University, Plovdiv, Bulgaria.
Grozdanova
I
I
Shishkoval
N
N
Hadzhipanayotova
N
N
D000015:Abnormalities, Multiple / Q000235:genetics; D002887:Chromosomes, Human, Pair 18; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009006:Monosomy; D010375:Pedigree; D014178:Translocation, Genetic; D014314:Trisomy