A case of partial trisomy 22 resulting from maternal 11/22 translocation

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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Incomplete trisomy 22

Schinzel

Schmid

Maur

et al. 1981

Hum Genet

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Analysis of human sperm chromosome complements from a male heterozygous for a reciprocal translocation t(11;22)(q23;q11)

Martin

1984

Clinical Genetics

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A reciprocal translocation between chromosomes 11 and 22 (t(l1;22)(q23;qll)) is a site-specific translocation that is of particular interest because of the propensity for 3: 1 segregation of the chromosomes during meiosis. There have been no published reports of chromosomally unbalanced offspring born as a result of adjacent 1 or 2 meiotic segregations in a heterozygote for this translocation. This could be explained by a meiotic mechanism which produces only 3: 1 chromosomal segregations or by differential embryonic survival in which 2: 2 adjacent segregations do not produce a viable pregnancy. To distinguish between these two possibilities, sperm chromosome complements from a man heterozygous for this 11;22 translocation were studied. The human sperm chromosomes were analysed after fertilization of zona pellucida-free golden hamster eggs. All possible 2:2 (alternate, adjacent 1, adjacent 2) and 3: 1 segregations were observed and these segregations occurred in approximately equal frequencies. The frequency of other chromosome abnormalities, unrelated to the translocation, did not appear to be increased. These results indicate that the 11;22 translocation does not specifically cause 3: 1 disjunction of chromosomes but that this segregation of chromosomes is more likely to result in a viable pregnancy.

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Congenital heart disease in supernumerary der(22), t(11;22) syndrome

et al. 1986

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A case of partial trisomy 22 resulting from maternal 11/22 translocation

Abstract: SummaryA malformed female infant with psychomotor and growth retardation was found to have partial trisomy 22 due to maternal translocation. The karyotype was designated as 47,XX,+der(22), t(11;22) (q25; ql3)mat. Comparison was made with 14 other reported cases of partial trisomy 22.

Cited by 3 publications

References 24 publications

Incomplete trisomy 22

Incomplete trisomy 22

Analysis of human sperm chromosome complements from a male heterozygous for a reciprocal translocation t(11;22)(q23;q11)

Congenital heart disease in supernumerary der(22), t(11;22) syndrome

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