Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome.

Literature DB >> 4045954

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

J L Watt, I A Olson, A W Johnston, H S Ross, D A Couzin, G S Stephen.

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.

Entities: Disease Gene

Mesh：

Year: 1985 PMID： 4045954 PMCID： PMC1049449 DOI： 10.1136/jmg.22.4.283

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

4 in total

1. Phenotypic correlations in patients with ring chromosome 22.

Authors: A G Hunter; M Ray; H S Wang; D R Thompson
Journal: Clin Genet Date: 1977-10 Impact factor: 4.438

2. Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy.

Authors: H J Kim; L Y Hsu; L C Goldsmith; L Strauss; K Hirschhorn
Journal: J Med Genet Date: 1977-04 Impact factor: 6.318

3. Trisomy 22q12 leads to qter: "aneusomie de recombinaison" of a pericentric inversion.

Authors: J M Cantu; A Hernandez; G Vaca; L Plascencia; C Martinez-Basalo; B Ibarra; H Rivera
Journal: Ann Genet Date: 1981

4. Segregation of a 22 ring chromosome in three generations.

Authors: C Stoll; M P Roth
Journal: Hum Genet Date: 1983 Impact factor: 4.132

4 in total

26 in total

1. Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter).

Authors: D R Romain; J Goldsmith; H Cairney; L M Columbano-Green; R H Smythe; R G Parfitt
Journal: J Med Genet Date: 1990-09 Impact factor: 6.318

2. Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS.

Authors: Roberto Mendoza-Londono; Edward Lammer; Rosemarie Watson; John Harper; Atsushi Hatamochi; Saori Hatamochi-Hayashi; Dobrawa Napierala; Pia Hermanns; Sinead Collins; Benjamin B Roa; Madhuri R Hedge; Keiko Wakui; Diep Nguyen; David W Stockton; Brendan Lee
Journal: Am J Hum Genet Date: 2005-05-27 Impact factor: 11.025

10. Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms.

Authors: H L Wilson; A C C Wong; S R Shaw; W-Y Tse; G A Stapleton; M C Phelan; S Hu; J Marshall; H E McDermid
Journal: J Med Genet Date: 2003-08 Impact factor: 6.318

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

1. Phenotypic correlations in patients with ring chromosome 22.

2. Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy.

3. Trisomy 22q12 leads to qter: "aneusomie de recombinaison" of a pericentric inversion.

4. Segregation of a 22 ring chromosome in three generations.

1. Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter).

2. Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS.

3. Long-Term Follow-Up of Pediatric Patients After Congenital Coronary Artery Fistula Closure.

4. Two 22q telomere deletions serendipitously detected by FISH.

Review 5. Phelan-McDermid Syndrome and SHANK3: Implications for Treatment.

Review 6. Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment.

Review 7. Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis.

Review 8. Terminal 22q deletion associated with a partial deficiency of arylsulphatase A.

9. Search for chromosomal variations among gas-exposed persons in Bhopal.

10. Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms.