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| NOONANS-SYNDROME AND DIGEORGE SYNDROME WITH MONOSOMY 22Q11 |
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| Author(s): WILSON DI, BRITTON SB, MCKEOWN C, KELLY D, CROSS IE, STROBEL S, SCAMBLER PJ |
| Source: ARCHIVES OF DISEASE IN CHILDHOOD Volume: 68 Issue: 2 Pages: 187-189 Published: FEB 1993 |
| Times Cited: 23 References: 19 |
| Abstract: A boy with the dysmorphic features of Noonan's syndrome and pulmonary valve stenosis who had evidence of hypoparathyroidism and abnormal T lymphocyte numbers in the neonatal period is reported. He had a normal karyotype but molecular analysis revealed a submicroscopic deletion within chromosome 22q11, the region deleted in DiGeorge syndrome. Thus this child has both Noonan's syndrome and DiGeorge syndrome; 22q11 is a candidate region for a gene defective in Noonan's syndrome. |
| Document Type: Article |
| Language: English |
| Reprint Address: WILSON, DI (reprint author), DEPT HUMAN GENET, 19 CLAREMONT PL, NEWCASTLE UPON TYNE NE2 4AA, ENGLAND |
Addresses:
1. GOOD HOPE HOSP, SUTTON COLDFIELD B75 7RR, W MIDLANDS ENGLAND
2. BIRMINGHAM MATERN HOSP, W MIDLANDS GENET SERV, BIRMINGHAM B15 2TG, W MIDLANDS ENGLAND
3. ST MARYS HOSP, SCH MED, DEPT BIOCHEM & MOLEC GENET, LONDON, ENGLAND
4. INST CHILD HLTH, DEPT IMMUNOL, LONDON WC1N 1EH, ENGLAND |
| Publisher: BRITISH MED JOURNAL PUBL GROUP, BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON, ENGLAND WC1H 9JR |
| Subject Category: Pediatrics |
| IDS Number: KM135 |
| ISSN: 0003-9888 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |