J Med Genet. 1985 Aug;22(4):283-7.

A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome.

Watt JL, Olson IA, Johnston AW, Ross HS, Couzin DA, Stephen GS.

Abstract

A family in which a pericentric inversion of chromosome 22, inv(22)(p11q12), is segregating is described. Special reference is made to a unique recombinant subject with a 'pure' partial monosomy 22 syndrome of maternal origin. An attempt has been made to correlate the phenotypic abnormalities with monosomy for the segment 22q12----qter.

PMID: 4045954 [PubMed - indexed for MEDLINE]PMCID: PMC1049449Free PMC Article

MeSH Terms

MeSH Terms:

LinkOut - more resources

Full Text Sources:

Medical:

GeneTests

Libraries:

LinkOut Holdings

Supplemental Content

Related citations

Application of fluorescence in situ hybridization for early prenatal diagnosis of partial trisomy 6p/monosomy 6q due to a familial pericentric inversion. [Clin Genet. 1993]
Application of fluorescence in situ hybridization for early prenatal diagnosis of partial trisomy 6p/monosomy 6q due to a familial pericentric inversion.
Wauters JG, Bossuyt PJ, Roelen L, van Roy B, Dumon J. Clin Genet. 1993 Nov; 44(5):262-9.
De novo partial monosomy 21 with unusual karyotype. [Jinrui Idengaku Zasshi. 1986]
De novo partial monosomy 21 with unusual karyotype.
Al-Awadi SA, Naguib KK, Teebi AS, Sundareshan TS. Jinrui Idengaku Zasshi. 1986 Mar; 31(1):45-8.
Meiotic analysis of a pericentric inversion, inv(7) (p22q32), in the father of a child with a duplication-deletion of chromosome 7. [Cytogenet Cell Genet. 1978]
Meiotic analysis of a pericentric inversion, inv(7) (p22q32), in the father of a child with a duplication-deletion of chromosome 7.
Winsor EJ, Palmer CG, Ellis PM, Hunter JL, Ferguson-Smith MA. Cytogenet Cell Genet. 1978; 20(1-6):169-84.
Review Distal monosomy of the long arm of chromosome 6 (6q25----6qter) inherited by maternal translocation t(6q;17q) [Ann Genet. 1990]
Review Distal monosomy of the long arm of chromosome 6 (6q25----6qter) inherited by maternal translocation t(6q;17q)
Oliveira-Duarte MH, Martelli-Soares LR, Sarquis-Cintra T, Machado ML, Lison MP. Ann Genet. 1990; 33(1):56-9.
Review Partial 18q trisomy and 18p monosomy resulting from a maternal pericentric inversion, inv(18)(p11.2q21.3). [Jinrui Idengaku Zasshi. 1991]
Review Partial 18q trisomy and 18p monosomy resulting from a maternal pericentric inversion, inv(18)(p11.2q21.3).
Asano T, Ikeuchi T, Shinohara T, Enokido H, Hashimoto K. Jinrui Idengaku Zasshi. 1991 Sep; 36(3):257-65.

See reviews... See all...

Cited by 9 PubMed Central articles

Deletion 22q13.3 syndrome. [Orphanet J Rare Dis. 2008]
Deletion 22q13.3 syndrome.
Phelan MC. Orphanet J Rare Dis. 2008 May 27; 3:14. Epub 2008 May 27.
Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS. [Am J Hum Genet. 2005]
Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS.
Mendoza-Londono R, Lammer E, Watson R, Harper J, Hatamochi A, Hatamochi-Hayashi S, Napierala D, Hermanns P, Collins S, Roa BB, et al. Am J Hum Genet. 2005 Jul; 77(1):161-8. Epub 2005 May 27.
Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms. [J Med Genet. 2003]
Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms.
Wilson HL, Wong AC, Shaw SR, Tse WY, Stapleton GA, Phelan MC, Hu S, Marshall J, McDermid HE. J Med Genet. 2003 Aug; 40(8):575-84.

See all...

All links from this record

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
References for this PMC Article
Citation referenced in PubMed article. Only valid for PubMed citations that are also in PMC.
Free in PMC
Free full text articles in PMC
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.
Cited in Books
NCBI Bookshelf books that cite the current articles.

Recent activity

Clear Turn Off Turn On

A familial pericentric inversion of chromosome 22 with a recombinant subject ill...
A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome.
J Med Genet. 1985 Aug ;22(4):283-7.

PubMed
Related Citations for PubMed (Select 19368725) (473)
PubMed
Related Citations for PubMed (Select 17562004) (381)
PubMed
Perforin and Fas pathways of cytotoxic T-cells in histiocytic necrotizing lympha...
Perforin and Fas pathways of cytotoxic T-cells in histiocytic necrotizing lymphadenitis.
Histopathology. 1998 Nov ;33(5):471-8.

PubMed
Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary stud...
Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study.
Lancet. 1999 Aug 7 ;354(9177):477-9.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Display Settings:

Send to:

A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome.

Abstract

MeSH Terms

MeSH Terms:

LinkOut - more resources

Full Text Sources:

Medical:

Libraries:

Supplemental Content

Related citations

Cited by 9 PubMed Central articles

All links from this record

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information