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The G deletion syndromes.

作者信息

Warren R J, Rimoin D L

出版信息

J Pediatr. 1970 Oct;77(4):658-63. doi: 10.1016/s0022-3476(70)80209-8.

DOI:10.1016/s0022-3476(70)80209-8

PMID:5454712

Abstract

摘要

相似文献

The G deletion syndromes.

J Pediatr. 1970 Oct;77(4):658-63. doi: 10.1016/s0022-3476(70)80209-8.

[Trisomy of group C (47, XX, C+)].

Arch Fr Pediatr. 1970;27(10):1081-8.

[Monosomy 21 with mosaicism 45,XX,21--46,XX,21 pi].

Arch Fr Pediatr. 1970;27(10):1069-79.

C8 trisomy mosaicism syndrome.

Helv Paediatr Acta. 1972 Jul;27(3):281-98.

Medical cytogenetics. II. Autosomal chromosomal abnormalities.

Chic Med Sch Q. 1968 Winter;27(2):90-107.

Absent thumbs with a ring D2 chromosome: a new deletion syndrome.

Am J Hum Genet. 1967 Sep;19(5):644-59.

Additional G-like chromosome in a malformed boy.

J Med Genet. 1971 Jun;8(2):244-9. doi: 10.1136/jmg.8.2.244.

[The deletion of the short arm of chromosome 18 (18p- syndrome), apropos of a new observation].

Ann Genet. 1968 Mar;11(1):17-21.

"Antimongolism" syndrome.

Br Med J. 1969 Oct 18;4(5676):148-9. doi: 10.1136/bmj.4.5676.148.

Elongated short arm of a G-group chromosome associated with similar phenotypic abnormalities in three patients.

J Pediatr. 1973 Sep;83(3):473-6. doi: 10.1016/s0022-3476(73)80279-3.

引用本文的文献

Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q.

Blood. 2008 Aug 15;112(4):1042-7. doi: 10.1182/blood-2008-01-135970. Epub 2008 May 16.

Hypogammaglobulinaemia in a patient with ring chromosome 21.

Arch Dis Child. 1997 Sep;77(3):252-4. doi: 10.1136/adc.77.3.252.

"Compensatory" uniparental disomy of chromosome 21 in two cases.

J Med Genet. 1994 Jul;31(7):534-40. doi: 10.1136/jmg.31.7.534.

A case of 21q-syndrome with half normal SOD-1 activity.

Hum Genet. 1983;64(2):200-2. doi: 10.1007/BF00327128.

Monosomy 22 with humoral immunodeficiency: is there an immunoglobulin chain deficit?

J Med Genet. 1983 Feb;20(1):69-72. doi: 10.1136/jmg.20.1.69.

A case of r(21) with stigmata of atypical Down syndrome.

Hum Genet. 1980;55(1):65-9. doi: 10.1007/BF00329128.

Monosomy G: case report and review of the literature.

J Med Genet. 1971 Dec;8(4):496-500. doi: 10.1136/jmg.8.4.496.

G-deletion syndrome II.

Humangenetik. 1972;14(2):164-6. doi: 10.1007/BF00273304.

A 45,XX,21--child: attempt at a cytological and clinical interpretation of the karyotype.

J Med Genet. 1972 Mar;9(1):110-5. doi: 10.1136/jmg.9.1.110.

Long-arm deletion of chromosome 22, with protein-losing enteropathy.

Proc R Soc Med. 1972 Dec;65(12):1081-3. doi: 10.1177/003591577206501212.

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The G deletion syndromes.

作者信息

Warren R J, Rimoin D L

出版信息

J Pediatr. 1970 Oct;77(4):658-63. doi: 10.1016/s0022-3476(70)80209-8.

DOI:10.1016/s0022-3476(70)80209-8

PMID:5454712

Abstract

摘要

相似文献

The G deletion syndromes.

J Pediatr. 1970 Oct;77(4):658-63. doi: 10.1016/s0022-3476(70)80209-8.

[Trisomy of group C (47, XX, C+)].

Arch Fr Pediatr. 1970;27(10):1081-8.

[Monosomy 21 with mosaicism 45,XX,21--46,XX,21 pi].

Arch Fr Pediatr. 1970;27(10):1069-79.

C8 trisomy mosaicism syndrome.

Helv Paediatr Acta. 1972 Jul;27(3):281-98.

Medical cytogenetics. II. Autosomal chromosomal abnormalities.

Chic Med Sch Q. 1968 Winter;27(2):90-107.

Absent thumbs with a ring D2 chromosome: a new deletion syndrome.

Am J Hum Genet. 1967 Sep;19(5):644-59.

Additional G-like chromosome in a malformed boy.

J Med Genet. 1971 Jun;8(2):244-9. doi: 10.1136/jmg.8.2.244.

[The deletion of the short arm of chromosome 18 (18p- syndrome), apropos of a new observation].

Ann Genet. 1968 Mar;11(1):17-21.

"Antimongolism" syndrome.

Br Med J. 1969 Oct 18;4(5676):148-9. doi: 10.1136/bmj.4.5676.148.

Elongated short arm of a G-group chromosome associated with similar phenotypic abnormalities in three patients.

J Pediatr. 1973 Sep;83(3):473-6. doi: 10.1016/s0022-3476(73)80279-3.

引用本文的文献

Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q.

Blood. 2008 Aug 15;112(4):1042-7. doi: 10.1182/blood-2008-01-135970. Epub 2008 May 16.

Hypogammaglobulinaemia in a patient with ring chromosome 21.

Arch Dis Child. 1997 Sep;77(3):252-4. doi: 10.1136/adc.77.3.252.

"Compensatory" uniparental disomy of chromosome 21 in two cases.

J Med Genet. 1994 Jul;31(7):534-40. doi: 10.1136/jmg.31.7.534.

A case of 21q-syndrome with half normal SOD-1 activity.

Hum Genet. 1983;64(2):200-2. doi: 10.1007/BF00327128.

Monosomy 22 with humoral immunodeficiency: is there an immunoglobulin chain deficit?

J Med Genet. 1983 Feb;20(1):69-72. doi: 10.1136/jmg.20.1.69.

A case of r(21) with stigmata of atypical Down syndrome.

Hum Genet. 1980;55(1):65-9. doi: 10.1007/BF00329128.

Monosomy G: case report and review of the literature.

J Med Genet. 1971 Dec;8(4):496-500. doi: 10.1136/jmg.8.4.496.

G-deletion syndrome II.

Humangenetik. 1972;14(2):164-6. doi: 10.1007/BF00273304.

A 45,XX,21--child: attempt at a cytological and clinical interpretation of the karyotype.

J Med Genet. 1972 Mar;9(1):110-5. doi: 10.1136/jmg.9.1.110.

Long-arm deletion of chromosome 22, with protein-losing enteropathy.

Proc R Soc Med. 1972 Dec;65(12):1081-3. doi: 10.1177/003591577206501212.