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Literature DB >> 739529

Segregation of an insertional chromosome rearrangement in 3 generations.

K E Toomey, T Mohandas, R S Sparkes, M M Kaback, D L Rimoin.

Abstract

The interstitial deletion of a segment of chromosome 13, 13q21 leads to 13q22, and its inversion and insertion into the long arm of chromosome 3 at breakpoint q12, was found to segregate in 3 generations of a family. Segregation of this 3 break rearrangement gave rise to individuals monosomic, trisomic, or balanced for the involved segment. Monosomy for 13q21 leads to 13q22 was associated with mental retardation, expressive aphasia, microcephaly, hand abnormalities, and short stature. Partially trisomic individuals had normal mentality, extremely high arched palate, and mild dysmorphic features. There was no evidence for retinoblastoma in the individuals examined. The balanced carriers were normal. Comparison of monosomic individuals with one previous report of a similar deletion reveals marked phenotypic similarities.

Entities: Disease

Mesh：

Year: 1978 PMID： 739529 PMCID： PMC1013736 DOI： 10.1136/jmg.15.5.382

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

14 in total

Segregation of an insertional chromosome rearrangement in 3 generations.

1. Retinoblastoma and chromosome 13.

2. Chromosomal deletion and retinoblastoma.

3. "Cri du chat" syndrome with maternal insertional translocation.

4. An analysis of the break points of structural rearrangements in man.

5. Familial insertional translocation.

6. An interstitial translocation: chromosome no. 1p to 4q.

7. Interstitial translocation in man.

8. Identification by fluorescent microscopy of the abnormal chromosomes associated with the G-deletion syndromes.

9. Familial mental retardation in a family with an inherited chromosome rearrangement.

10. Functional implications of differential chromosome banding.

1. Deletion 15q21.1----q22.1 resulting from a paternal insertion into chromosome 5.

2. A case of inverted insertion assessed by R and G banding.

3. A familial insertion involving an active nucleolar organiser within chromosome 12.

4. The phenotype in partial 13q trisomies, apropos of a familial (13;15)(q22;q26) translocation.

5. Interstitial deletion of chromosome 13: prognosis and adult phenotype.

6. Pure monosomy and trisomy 2q24.2----q3105 due to an inv ins(7;2)(q21.2;q3105q24.2) segregating in four generations.