一名核型为46,XX,t(1;15)的女孩。细胞遗传学和临床观察。 - Suppr

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A girl with 46,XX,t(1;15) karyotype. Cytogenetic and clinical observations.

作者信息

van Hemel J O, van Biervliet J P, de Jager-van der Grift P W

出版信息

Clin Genet. 1975 Sep;8(3):213-7. doi: 10.1111/j.1399-0004.1975.tb01496.x.

DOI:10.1111/j.1399-0004.1975.tb01496.x

PMID:1175325

Abstract

摘要

相似文献

A girl with 46,XX,t(1;15) karyotype. Cytogenetic and clinical observations.

Clin Genet. 1975 Sep;8(3):213-7. doi: 10.1111/j.1399-0004.1975.tb01496.x.

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J Pediatr. 1967 Nov;71(5):719-22. doi: 10.1016/s0022-3476(67)80211-7.

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Inherited partial duplication of chromosome No. 15.

J Med Genet. 1974 Sep;11(3):287-91. doi: 10.1136/jmg.11.3.287.

Malformative syndrome with ring chromosome 13.

Humangenetik. 1974;24(3):235-40. doi: 10.1007/BF00283592.

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Placental chorangiomata and mental deficiency in a child with 2/15 translocation: 46,XX,t(2q-;15q+).

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引用本文的文献

Balanced translocations in mental retardation.

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Hum Genet. 1984;66(4):313-34. doi: 10.1007/BF00287636.

An azoospermic male with reciprocal translocation t(1;15) (q11;p11).

Hum Genet. 1987 Nov;77(3):294. doi: 10.1007/BF00284491.

Abnormal childhood phenotypes associated with the same balanced chromosome rearrangements as in the parents.

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A girl with 46,XX,t(1;15) karyotype. Cytogenetic and clinical observations.

作者信息

van Hemel J O, van Biervliet J P, de Jager-van der Grift P W

出版信息

Clin Genet. 1975 Sep;8(3):213-7. doi: 10.1111/j.1399-0004.1975.tb01496.x.

DOI:10.1111/j.1399-0004.1975.tb01496.x

PMID:1175325

Abstract

摘要

相似文献

A girl with 46,XX,t(1;15) karyotype. Cytogenetic and clinical observations.

Clin Genet. 1975 Sep;8(3):213-7. doi: 10.1111/j.1399-0004.1975.tb01496.x.

Ring 1 chromosome and dwarfism--a possible syndrome.

J Pediatr. 1967 Nov;71(5):719-22. doi: 10.1016/s0022-3476(67)80211-7.

X;15 translocation in a retarded girl: X inactivation pattern and attempt to localise the hexosaminidase A and other loci.

J Med Genet. 1979 Aug;16(4):254-62. doi: 10.1136/jmg.16.4.254.

Autosomal translocation in a mentally retarded male child with 46,XY,t(2q-;13q+) complement. Case report and review.

J Med Genet. 1971 Dec;8(4):504-8. doi: 10.1136/jmg.8.4.504.

Partial monosomy of 7q32 in a case of de novo rcp(7;15)(q32;q15).

J Med Genet. 1994 May;31(5):413-5. doi: 10.1136/jmg.31.5.413.

Cytogenetic study of a 5-14 translocation in man.

J Hered. 1973 Sep-Oct;64(5):299-300. doi: 10.1093/oxfordjournals.jhered.a108419.

Inherited partial duplication of chromosome No. 15.

J Med Genet. 1974 Sep;11(3):287-91. doi: 10.1136/jmg.11.3.287.

Malformative syndrome with ring chromosome 13.

Humangenetik. 1974;24(3):235-40. doi: 10.1007/BF00283592.

[Clinical case of tandem translocation between chromosomes 13 and 15].

Tsitol Genet. 1985 Jul-Aug;19(4):304-8.

Placental chorangiomata and mental deficiency in a child with 2/15 translocation: 46,XX,t(2q-;15q+).

Cytogenetics. 1969;8(5):389-99. doi: 10.1159/000130048.

引用本文的文献

Balanced translocations in mental retardation.

Hum Genet. 2009 Jul;126(1):133-47. doi: 10.1007/s00439-009-0661-6. Epub 2009 Apr 5.

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

Hum Genet. 1984;66(4):313-34. doi: 10.1007/BF00287636.

An azoospermic male with reciprocal translocation t(1;15) (q11;p11).

Hum Genet. 1987 Nov;77(3):294. doi: 10.1007/BF00284491.

Abnormal childhood phenotypes associated with the same balanced chromosome rearrangements as in the parents.

Hum Genet. 1979 Apr 17;48(1):7-12. doi: 10.1007/BF00273267.