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新发间质性缺失del(1)(p21p32)

De novo interstitial deletion del(1)(p21p32).

作者信息

Bene M, Duca-Marinescu A, Ioan D, Maximilian C

出版信息

J Med Genet. 1979 Aug;16(4):323-7. doi: 10.1136/jmg.16.4.323.

DOI:10.1136/jmg.16.4.323
PMID:490590
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1012682/
Abstract

A girl aged 14 years 9 months, overweight, with severe psychomotor retardation, short stature, a sheep-like face, malformed ears, skeletal and dermatoglyphic abnormalities, and partial deletion of the short arm of chromosome 1 is presented. The karyotype was 46,XX,del(1)(qter to p22::p32 to pter).

摘要

报告了一名14岁9个月的女孩，超重，有严重精神运动发育迟缓、身材矮小、羊样面容、耳部畸形、骨骼和皮纹异常，以及1号染色体短臂部分缺失。核型为46,XX,del(1)(qter至p22::p32至pter)。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e03e/1012682/6a12031d30a3/jmedgene00293-0083-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e03e/1012682/b035ee1785de/jmedgene00293-0082-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e03e/1012682/56d2abaa9058/jmedgene00293-0082-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e03e/1012682/045cf967b296/jmedgene00293-0083-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e03e/1012682/6f0b320f7ad5/jmedgene00293-0083-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e03e/1012682/6a12031d30a3/jmedgene00293-0083-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e03e/1012682/b035ee1785de/jmedgene00293-0082-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e03e/1012682/56d2abaa9058/jmedgene00293-0082-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e03e/1012682/045cf967b296/jmedgene00293-0083-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e03e/1012682/6f0b320f7ad5/jmedgene00293-0083-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e03e/1012682/6a12031d30a3/jmedgene00293-0083-c.jpg

相似文献

1
De novo interstitial deletion del(1)(p21p32).新发间质性缺失del(1)(p21p32)
J Med Genet. 1979 Aug;16(4):323-7. doi: 10.1136/jmg.16.4.323.
2
De novo interstitial deletion of 1p (pter----p34.1::p32.3----qter).1号染色体短臂从头至尾的间质性缺失（pter----p34.1::p32.3----qter）
J Med Genet. 1991 Aug;28(8):539-40. doi: 10.1136/jmg.28.8.539.
3
Interstitial deletion of the short arm of chromosome 12. Report of a new patient and review of the literature.12号染色体短臂的间质缺失。一例新患者的报告及文献复习。
Ann Genet. 1990;33(1):43-5.
4
A case of partial 9p monosomy with some unusual clinical features.一例具有一些不寻常临床特征的9号染色体短臂部分单体综合征病例。
Ann Genet. 1978 Mar;21(1):51-5.
5
A girl with an interstitial deletion of the short arm of chromosome 3 studied with a high-resolution banding technique.一名患有3号染色体短臂间质性缺失的女孩，采用高分辨率显带技术进行了研究。
Hum Genet. 1981;59(2):178-81. doi: 10.1007/BF00293073.
6
Interstitial deletion of chromosome 1 (q23-q25). Report of a case.1号染色体（q23-q25）间质性缺失。1例报告。
Clin Genet. 1984 Jun;25(6):549-52. doi: 10.1111/j.1399-0004.1984.tb00500.x.
7
Interstitial deletion in the long arms of chromosome 1: 46,XY,del(1)(pter leads to q22::q25 leads to qter).1号染色体长臂间质缺失：46，XY，del(1)(pter导致q22::q25导致qter) 。
J Med Genet. 1980 Dec;17(6):483-6. doi: 10.1136/jmg.17.6.483.
8
Langer-Giedion syndrome with interstitial 8q-deletion.伴有8号染色体长臂间质性缺失的朗格-吉迪恩综合征。
Am J Med Genet. 1982 Mar;11(3):353-8. doi: 10.1002/ajmg.1320110312.
9
Interstitial deletion of the long arm of chromosome 2 in a malformed infant with karyotype 46,XX,del(2)(q31q33).一名核型为46,XX,del(2)(q31q33)的畸形婴儿存在2号染色体长臂的间质缺失。
Am J Med Genet. 1986 Nov;25(3):405-11. doi: 10.1002/ajmg.1320250302.
10
De novo partial 2p duplication with postmortem description.
Am J Med Genet. 1981;10(1):55-64. doi: 10.1002/ajmg.1320100108.

引用本文的文献

1
Chromosome 1p31.1 Deletion: A Case With Developmental Delay, Hypotonia, Cryptorchidism, Abnormal Oral Frenulum, and Feet Deformity.1号染色体p31.1缺失：一例伴有发育迟缓、肌张力低下、隐睾、口腔系带异常及足部畸形的病例。
Case Rep Genet. 2025 Jul 27;2025:6152118. doi: 10.1155/crig/6152118. eCollection 2025.
2
Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles.1p 号染色体间区缺失：1 例颅缝早闭、眼眶裂和腭裂新生儿的 1p31.3p22.2 微缺失，并复习相关基因组和表型特征
Ital J Pediatr. 2022 Mar 4;48(1):38. doi: 10.1186/s13052-022-01232-7.
3

本文引用的文献

1
[An uncommon malformation-retardation syndrome with "sheep-like face" and associated with autosomal structural aberration (author's transl)].
Klin Padiatr. 1973 Sep;185(5):346-51.
2
A partial trisomy of chromosome 1 in a family with a t(1q-;4q+) translocation.一个患有t(1q-;4q+)易位的家族中1号染色体的部分三体性。
Clin Genet. 1973 Jun;4(6):474-9. doi: 10.1111/j.1399-0004.1973.tb01935.x.
3
Partial Trisomy 1, Karyotype 46,XY,12-,t(1q,12p)+.1号染色体部分三体，核型为46，XY，12-，t(1q,12p)+ 。
Monozygotic dichorionic diamniotic twins with large interstitial deletion of chromosome 1p.
1号染色体短臂存在大片段间质缺失的单卵双绒毛膜双羊膜囊双胎
Clin Case Rep. 2019 Aug 6;7(9):1735-1740. doi: 10.1002/ccr3.2358. eCollection 2019 Sep.
4
Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature.一名患有颅缝早闭、中枢神经系统和肾脏畸形患者的1号染色体1p31.1p31.3缺失：病例报告及文献复习
Mol Syndromol. 2017 Jan;8(1):30-35. doi: 10.1159/000452609. Epub 2016 Nov 17.
5
Partial Deletion of Chromosome 1p31.1 Including only the Neuronal Growth Regulator 1 Gene in Two Siblings.1号染色体p31.1区域部分缺失，仅累及两名同胞中的神经元生长调节因子1基因。
J Pediatr Genet. 2015 Mar;4(1):23-8. doi: 10.1055/s-0035-1554977.
6
Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability.1p31.3 - p32.2区域的比较性缺失图谱表明，NFIA基因与智力残疾伴巨头畸形有关，并且还存在其他几个导致综合征性智力残疾的基因。
Mol Cytogenet. 2016 Mar 17;9:24. doi: 10.1186/s13039-016-0234-z. eCollection 2016.
7
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features.基于微阵列的比较基因组杂交技术（阵列比较基因组杂交，array-CGH）可检测学习障碍/智力迟钝及畸形特征患者的亚显微染色体缺失和重复。
J Med Genet. 2004 Apr;41(4):241-8. doi: 10.1136/jmg.2003.017731.
8
Interstitial deletion 1p in a 30 year old woman.一名30岁女性的1号染色体短臂间质性缺失
J Med Genet. 1987 Apr;24(4):229-31. doi: 10.1136/jmg.24.4.229.
9
Two cases of interstitial deletion 1p.两例1p间质缺失病例。
J Med Genet. 1991 Feb;28(2):128-30. doi: 10.1136/jmg.28.2.128.
10
De novo interstitial deletion of 1p (pter----p34.1::p32.3----qter).1号染色体短臂从头至尾的间质性缺失（pter----p34.1::p32.3----qter）
J Med Genet. 1991 Aug;28(8):539-40. doi: 10.1136/jmg.28.8.539.
Humangenetik. 1973 May 25;18(3):225-30. doi: 10.1007/BF00290601.
4
[De novo interstitial deletion Del (1) (q24 q32.1) in a malformed child].[一名畸形儿童的新发间质性缺失Del(1)(q24 q32.1)]
Ann Genet. 1974 Dec;17(4):291-4.
5
[A new malformation-retardation syndrome (Wiedemann and Tolksdorf) (author's transl)].
Monatsschr Kinderheilkd (1902). 1974 Dec;122(12):900-6.
6
Trisomy of the long arm of human chromosome 1.人类1号染色体长臂三体性
Humangenetik. 1974;25(1):79-82. doi: 10.1007/BF00281010.
7
Partial monosomy or trisomy resulting from crossing over within a rearranged chromosome 1.
Clin Genet. 1976 Dec;10(6):319-24. doi: 10.1111/j.1399-0004.1976.tb00055.x.
8
Primary hypothyroidism, growth hormone deficiency and congenital malformations in a child with the karyotype 46,XY,del(1)(q25q32).一名核型为46,XY,del(1)(q25q32)的儿童患有原发性甲状腺功能减退、生长激素缺乏和先天性畸形。
Acta Paediatr Scand. 1976 Jul;65(4):513-8. doi: 10.1111/j.1651-2227.1976.tb04923.x.
9
Partial trisomy 1 due to a "shift" and probable location of the Duffy (Fy) locus.由于“移位”导致的1号染色体部分三体以及达菲（Fy）基因座的可能位置。
Am J Hum Genet. 1977 Jul;29(4):371-7.