CHARGE syndrome with del(3)(p13p21): Expanding the genotype

Israel Medical Association Journal

Volumn 14, Issue 2, 2012, Pages 133-134

  Moustafa Hawash, Nivin ^a,b   Smolkin, Tatiana ^a,b   Ilivitzki, Anat ^a,b   Zimberg Bossira, Avishag ^a,b   Gildish, Anna ^a,b   Gershoni Baruch, Ruth ^a,b   Makhoul, Imad R ^a,b  

^a MEYER CHILDREN S HOSPITAL   (Israel)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

Author keywords

CHARGE syndrome; Choanal atresia; Cryptorchidism; Extra rib; Horse shoe kidney; Intrauterine growth restriction (IUGR); Iridial coloboma; Microcephaly; Micropenis; Posterior anus; Sensorineural hearing loss

Indexed keywords

ARTICLE; CASE REPORT; CHOANA ATRESIA; CHROMOSOME DELETION; CHROMOSOME DELETION 3P; CORPUS CALLOSUM AGENESIS; CRYPTORCHISM; DEVELOPMENTAL DISORDER; DYSPHAGIA; EAR MALFORMATION; GENOTYPE; GROWTH RETARDATION; HORSESHOE KIDNEY; HUMAN; INFANT; INTERSTITIAL CHROMOSOME DELETION; INTESTINE MALFORMATION; IRIS COLOBOMA; KARYOTYPE 46,XY; LOW BIRTH WEIGHT; MALE; MICROCEPHALY; MICROPENIS; PATENT DUCTUS ARTERIOSUS; PERCEPTION DEAFNESS; PHYSICAL EXAMINATION; PILONIDAL SINUS; PULMONARY VALVE STENOSIS; SMALL FOR DATE INFANT; SYNDROME CHARGE;

ABNORMALITIES, MULTIPLE; CHARGE SYNDROME; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 3; FOLLOW-UP STUDIES; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE;

EID: 84857376984     PISSN: 15651088     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Lalani SR, Safiullah AM, Fernbach SD, et al. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet 2006; 78: 303-14.
2. Zentner GE, Layman WS, Martin DM, Scacheri PC. Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. Am J Med Genet A 2010; 152A: 674-86.
3. Wincent J, Holmberg E, Stromland K, et al. CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome. Clin Genet 2008; 74: 31-8.
4. Blake KD, Davenport SL, Hall BD, et al. CHARGE association: an update and review for the primary pediatrician. Clin Pediatr (Phila) 1998; 37: 159-73.
5. Wieczorek D, Bolt J, Schwechheimer K, Gillessen-Kaesbach G. A patient with interstitial deletion of the short arm of chromosome 3 (pter-->p21.2::p12- ->qter) and a CHARGE-like phenotype. Am J Med Genet 1997; 69: 413-17.