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Literature DB >> 7473663

Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion.

J O Van Hemel¹, C Schaap, D Van Opstal, M P Mulder, M F Niermeijer, J H Meijers.

Abstract

We report on a prenatal diagnosis by FISH of a familial 22q11 deletion associated with DiGeorge syndrome (DGS). The deletion was seen in the proband with symptoms of full DGS, in the physically normal father, and in a subsequent pregnancy. After birth this child showed hypocalcaemia, a T cell deficit, and a right sided aortic arch.

Entities: Disease Species

Mesh：

Year: 1995 PMID： 7473663 PMCID： PMC1051646 DOI： 10.1136/jmg.32.8.657

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

9 in total

1. Possible role for COMT in psychosis associated with velo-cardio-facial syndrome.

Authors: I Dunham; J Collins; R Wadey; P Scambler
Journal: Lancet Date: 1992-11-28 Impact factor: 79.321

2. A prospective cytogenetic study of 36 cases of DiGeorge syndrome.

Authors: D I Wilson; I E Cross; J A Goodship; J Brown; P J Scambler; H H Bain; J F Taylor; K Walsh; A Bankier; J Burn
Journal: Am J Hum Genet Date: 1992-11 Impact factor: 11.025

3. Antenatal diagnosis of DiGeorge syndrome.

Authors: D A Driscoll; M L Budarf; B S Emanuel
Journal: Lancet Date: 1991-11-30 Impact factor: 79.321

4. Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization.

Authors: C Desmaze; P Scambler; M Prieur; S Halford; D Sidi; F Le Deist; A Aurias
Journal: Hum Genet Date: 1993-02 Impact factor: 4.132

Review 5. DiGeorge syndrome: an historical review of clinical and cytogenetic features.

Authors: F Greenberg
Journal: J Med Genet Date: 1993-10 Impact factor: 6.318

6. Deletions within chromosome 22q11 in familial congenital heart disease.

Authors: D I Wilson; J A Goodship; J Burn; I E Cross; P J Scambler
Journal: Lancet Date: 1992-09-05 Impact factor: 79.321

7. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.

Authors: D A Driscoll; J Salvin; B Sellinger; M L Budarf; D M McDonald-McGinn; E H Zackai; B S Emanuel
Journal: J Med Genet Date: 1993-10 Impact factor: 6.318

8. DiGeorge syndrome: part of CATCH 22.

Authors: D I Wilson; J Burn; P Scambler; J Goodship
Journal: J Med Genet Date: 1993-10 Impact factor: 6.318

9. Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome.

Authors: A H Carey; D Kelly; S Halford; R Wadey; D Wilson; J Goodship; J Burn; T Paul; A Sharkey; J Dumanski
Journal: Am J Hum Genet Date: 1992-11 Impact factor: 11.025

9 in total

8 in total

8. Prediction, prevention and personalisation of medication for the prenatal period: genetic prenatal tests for both rare and common diseases.

Authors: Munis Dundar; Asli Subasioglu Uzak; Murat Erdogan; Yagut Akbarova
Journal: EPMA J Date: 2011-05-06 Impact factor: 6.543

8 in total

Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion.

1. Possible role for COMT in psychosis associated with velo-cardio-facial syndrome.

2. A prospective cytogenetic study of 36 cases of DiGeorge syndrome.

3. Antenatal diagnosis of DiGeorge syndrome.

4. Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization.

Review 5. DiGeorge syndrome: an historical review of clinical and cytogenetic features.

6. Deletions within chromosome 22q11 in familial congenital heart disease.

7. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.

8. DiGeorge syndrome: part of CATCH 22.

9. Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome.

1. Prenatal diagnosis of 22q11 deletions: a series of five cases with congenital heart defects.

2. Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome.

3. 22q11 microdeletion studies in the heart tissue of an abortus involving a familial form of congenital heart disease.

4. Trisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generations.

Review 5. Phenotype of adults with the 22q11 deletion syndrome: A review.

6. Prenatal diagnosis by FISH of a 22q11 deletion in two families.

7. Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size.

8. Prediction, prevention and personalisation of medication for the prenatal period: genetic prenatal tests for both rare and common diseases.