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Blepharophimosis-mental retardation syndrome and terminal deletion of chromosome 3p.

作者信息

Moncla A, Philip N, Mattei J F

出版信息

J Med Genet. 1995 Mar;32(3):245-6. doi: 10.1136/jmg.32.3.245-a.

DOI:10.1136/jmg.32.3.245-a
PMID:7783183
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050331/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f917/1050331/9a285bab3301/jmedgene00270-0087-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f917/1050331/ff1b4c7fef3e/jmedgene00270-0087-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f917/1050331/9a285bab3301/jmedgene00270-0087-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f917/1050331/ff1b4c7fef3e/jmedgene00270-0087-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f917/1050331/9a285bab3301/jmedgene00270-0087-b.jpg

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Unique case reports associated with ovarian failure: necessity of two intact x chromosomes.与卵巢功能衰竭相关的独特病例报告：两条完整X染色体的必要性。
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本文引用的文献

1
A case with blepharophimosis resembling Ohdo syndrome.
Clin Dysmorphol. 1994 Apr;3(2):125-7.
2
Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth.具有独特面容、新生儿肌张力减退、智力障碍和牙齿发育不全的类Ohdo睑裂狭小综合征
Clin Dysmorphol. 1994 Apr;3(2):115-20.
3
Molecular genetic analysis of the 3p- syndrome.3p-综合征的分子遗传学分析
Hum Mol Genet. 1994 Jun;3(6):903-8. doi: 10.1093/hmg/3.6.903.
4
Blepharophimosis, ptosis and mental retardation: further delineation of Ohdo syndrome.睑裂狭小、上睑下垂与智力发育迟缓：Ohdo综合征的进一步界定
Clin Dysmorphol. 1994 Apr;3(2):121-4.
5
Unknown syndrome: abnormal facies, hypothyroidism, and severe retardation: a second patient.不明综合征：面容异常、甲状腺功能减退及重度智力发育迟缓：第二例患者
J Med Genet. 1988 Jul;25(7):498-9. doi: 10.1136/jmg.25.7.498.
6
Unknown syndrome: abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient.未知综合征：面容异常、甲状腺功能减退、轴后多指畸形及严重智力发育迟缓：第三例患者
J Med Genet. 1989 Dec;26(12):785-6. doi: 10.1136/jmg.26.12.785.
7
The Ohdo blepharophimosis syndrome: a third case.大土井睑裂狭小综合征：第三例病例
J Med Genet. 1991 Feb;28(2):131-4. doi: 10.1136/jmg.28.2.131.
8
Further evidence for the location of the BPES gene at 3q2.有关小眼症相关基因定位于3q2的进一步证据。
J Med Genet. 1991 Oct;28(10):725. doi: 10.1136/jmg.28.10.725.
9
Blepharophimosis, iris coloboma, microgenia, hearing loss, postaxial polydactyly, aplasia of corpus callosum, hydroureter, and developmental delay.
Am J Med Genet. 1990 Jul;36(3):273-4. doi: 10.1002/ajmg.1320360304.
10
Infant with del(3) (p25-pter): karyotype-phenotype correlation and review of previously reported cases.患有3号染色体短臂缺失（p25-pter）的婴儿：核型与表型的相关性及既往报道病例综述
Am J Med Genet. 1992 Nov 15;44(5):573-5. doi: 10.1002/ajmg.1320440508.