[22号环状染色体综合征，附4例新病例]
[The r(22) syndrome, Apropos of 4 new cases].
作者信息
Rethore M O, Noël B, Couturier J, Prieur M, Lafourcade J, Lejeune J
出版信息
Ann Genet. 1976 Jun;19(2):111.
PMID:822770
Abstract
Four patients with a ring derived from chromosome n 22 - r(22)-are reported. The clinical syndrome is described, based on the description of these patients and ten others already reported in the litterature. The "doe's eye" anomaly appears to be the only morphological symptom of the disease. Mental retardation is pronounced and associated with disturbed equilibrium.
摘要
报告了4例具有源自22号染色体的环状染色体-r(22)-的患者。根据这些患者以及文献中已报道的其他10例患者的描述，对临床综合征进行了描述。“鹿眼”异常似乎是该疾病唯一的形态学症状。智力发育迟缓明显，并伴有平衡障碍。
相似文献
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[The r(22) syndrome, Apropos of 4 new cases].[22号环状染色体综合征，附4例新病例]
Ann Genet. 1976 Jun;19(2):111.
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Ring chromosome 16: a new case.16号环状染色体：一例新病例。
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引用本文的文献
1
Fetal phenotype in a case of partial trisomy 21 and partial monosomy 22 detected prenatally.产前检测出的一例21号染色体部分三体和22号染色体部分单体病例中的胎儿表型。
J Med Genet. 1981 Oct;18(5):383-5. doi: 10.1136/jmg.18.5.383.
2
Human chromosome 22.人类22号染色体。
J Med Genet. 1987 Feb;24(2):65-78. doi: 10.1136/jmg.24.2.65.
3
Full monosomy 21: a clinically recognizable syndrome?21号染色体完全单体性：一种临床上可识别的综合征？
Hum Genet. 1977 Jun 30;37(2):155-9. doi: 10.1007/BF00393578.
4
An r(22)(p11 leads to q13) in a moderately mentally retarded girl.一名中度精神发育迟滞女孩存在r(22)(p11导致q13)异常。
Hum Genet. 1979 Oct 1;51(2):157-62. doi: 10.1007/BF00287170.
5
Ring chromosome 22 in a mentally retarded child and mosaic 45,XX,-15,-22,+t(15;22)(p11;q11)/46,XX,r(22)/46,XX karyotype in the mother.一名智力发育迟缓儿童的22号环状染色体以及其母亲的45,XX,-15,-22,+t(15;22)(p11;q11)/46,XX,r(22)/46,XX核型嵌合体。
Hum Genet. 1979 Mar 12;47(2):213-6. doi: 10.1007/BF00273205.
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