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Title

Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients
Authors
Fokstuen, Siv
Bottani, Armand
Medeiros, P. F.
Antonarakis, Stylianos
Stoll, C.
Schinzel, A.
Published in American journal of medical genetics. 1997, vol. 70, no. 2, p. 130-133
Abstract The clinical manifestations of patients with a 22q11.2 deletion are highly variable and mainly include developmental defects of structures derived from the third and fourth pharyngeal pouches. Laryngeal atresia has occasionally been reported in DiGeorge syndrome as well as in velo-cardio-facial syndrome. We observed three patients with type III laryngeal atresia (glottic web) and 22q11.2 microdeletion. One patient showed a "classical" 22q11.2 deletion phenotype with clinical overlap with DiGeorge and velo-cardio-facial syndromes. However, the pattern of congenital anomalies of the two others was less specific, heart defects and minor anomalies being the only outstanding clinical manifestations suspicious for monosomy 22q11.2. Our findings suggest that laryngeal atresia represents an additional malformation which should prompt investigation of 22q11.2 deletion, especially in combination with congenital heart defects.
Keywords Child — Chromosome Deletion — Chromosomes, Human, Pair 22/ genetics — Female — Humans — Infant, Newborn — Larynx/ abnormalities — Linkage (Genetics)
Identifiers
PMID: 9128930
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Article - document accessible for UNIGE members only Limited access to UNIGE
Structures
Faculté de médecine / Section de médecine clinique / Département de médecine
Citation
(ISO format) 		FOKSTUEN, Siv et al. Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients. In: American journal of medical genetics, 1997, vol. 70, n° 2, p. 130-133. doi: 10.1002/(sici)1096-8628(19970516)70:2<130::aid-ajmg5>3.0.co;2-1 https://archive-ouverte.unige.ch/unige:8746

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Deposited on : 2010-07-12

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