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Literature DB >> 1277574

Mental retardation, malformation syndrome andpartial 7p monosomy [45, XX, tdic (7;15) (p21;p11)].

Y Nakagome, F Teramura, K Katoaka, F Hosono.

Abstract

A mentally retarded and malformed girl is described. Her karyotype was 45,XX,tdic (7;15) (p21;p11), i.e. she was monosomic for bands 7p22 and a part of 7p21. Only one of the two centromeres of the dicentric chromosome appeared to be functioning. The C-band positive material was retained by both centromeres (or adjacent to them). However, the Cd-band positive structure was absent in the presumably nonfunctioning centromere region.

Entities: Disease Gene Species

Mesh：

Year: 1976 PMID： 1277574

Source DB: PubMed Journal: Clin Genet ISSN： 0009-9163 Impact factor: 4.438

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Cited

20 in total

1. A girl with mosaicism for a dicentric X chromosome (45,X/46,X,dic(X) (Xqter to p22::p22 to qter)).

Authors: J F Mattei; H Taramasco; M G Mattei; C Lucas; L Aubert; F Giraud
Journal: Hum Genet Date: 1977-08-31 Impact factor: 4.132

Review 2. Genetic markers on chromosome 7.

Authors: L C Tsui
Journal: J Med Genet Date: 1988-05 Impact factor: 6.318

8. A craniosynostosis in a boy with a del(7)(p15.3p21.3): assignment by deletion mapping of the critical segment for craniosynostosis to the mid-portion of 7p21.

Authors: T Motegi; M Ohuchi; C Ohtaki; K Fujiwara; S Enomoto; T Hasegawa; K Kishi; H Hayakawa
Journal: Hum Genet Date: 1985 Impact factor: 4.132

Review 9. Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.

Authors: M G Mattei; N Souiah; J F Mattei
Journal: Hum Genet Date: 1984 Impact factor: 4.132

10. Centromeric heterochromatin in the karyotype of the male greater kudu, Tragelaphus strepsiceros.

Authors: A Dain; H M Dott
Journal: Experientia Date: 1982-04-15

Mental retardation, malformation syndrome andpartial 7p monosomy [45, XX, tdic (7;15) (p21;p11)].

1. A girl with mosaicism for a dicentric X chromosome (45,X/46,X,dic(X) (Xqter to p22::p22 to qter)).

Review 2. Genetic markers on chromosome 7.

Review 3. C-anaphases in lymphocyte cultures versus premature centromere division syndromes.

4. Telomere replication, kinetochore organizers, and satellite DNA evolution.

5. Chromosome 7 short arm deletion, 7p21----pter.

6. Familial dicentric translocation t(13;18)(p13;p11.2) ascertained by recurrent miscarriages.

7. Single Cd band in dicentric translocations with one suppressed centromere.

8. A craniosynostosis in a boy with a del(7)(p15.3p21.3): assignment by deletion mapping of the critical segment for craniosynostosis to the mid-portion of 7p21.

Review 9. Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.

10. Centromeric heterochromatin in the karyotype of the male greater kudu, Tragelaphus strepsiceros.