Incomplete trisomy 22
Heart Defects, Congenital
Male
0301 basic medicine
2716 Genetics (clinical)
Adolescent
10039 Institute of Medical Genetics
Congenital Heart
610 Medicine & health
Trisomy
142-005 142-005
Translocation, Genetic
03 medical and health sciences
1311 Genetics
Intellectual Disability
Genetics
Chromosomes, Human, 21-22 and Y
Humans
Abnormalities, Multiple
Child
Genetics (clinical)
Perinatal Mortality
Chromosomes, Human, 6-12 and X
Infant, Newborn
Pedigree
Distal Segment
Cleft Palate
Phenotype
Characteristic Face
Child, Preschool
Face
570 Life sciences; biology
Female
DOI:
10.1007/bf00274675
Publication Date:
2004-11-07T23:22:04Z
AUTHORS (7)
ABSTRACT
A syndrome due to 3:1 meiotic segregation of balanced 11/22 translocation is defined from nine personally observed patients and 22 cases from the literature with apparently the same aberration. Frequent findings include a characteristic face with deep-set eyes, flat nose, prominent upper lip, receding mandible and preauricular pits or tags, male genital hypoplasia, anal atresia or other anomalies of the anus, cleft palate, and congenital heart defect. Less frequent are severe reduction of the auricles, an additional pair of ribs, and hypoplasia of the diaphragm. Perinatal mortality is high. Growth is usually and psychomotor development is invariably and severely delayed. Balanced 11/22 translocations are apparently disproportionally frequent; as the balanced rearrangement is not easy to detect, it is important to be aware of it at the family investigation of cases with extra chromosomes similar to a No. 22 or 22q-. The unbalanced products are most probably trisomic for both a segment of 22 (22q-) and a distal segment of 11q; the exact determination of the breakpoints is not possible at present due to the similar banding characteristics of the two segments involved in the translocation.
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