A microdeletion 22q11.2 can resemble Shprintzen-Goldberg omphalocele syndrome [7]

American Journal of Medical Genetics, Part A

Volumn 140, Issue 24, 2006, Pages 2838-2839

  Strenge, Sibylle ^a   Kujat, Annegret ^a   Zelante, Leopoldo ^b   Froster, Ursula G ^a  

^a UNIVERSITY OF LEIPZIG   (Germany)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ANUS ATRESIA; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME G BAND; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; DYSPHAGIA; ESOPHAGUS FUNCTION DISORDER; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; GALACTOSIALIDOSIS; HUMAN; HYPOPLASIA; KARYOTYPING; LARYNX DISORDER; LEARNING DISORDER; LETTER; MALE; MENTAL DEFICIENCY; MOTOR RETARDATION; OMPHALOCELE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCOLIOSIS; SHORT STATURE; SHPRINTZEN GOLDBERG OMPHALOCELE SYNDROME; SOLITARY KIDNEY; STRUCTURAL CHROMOSOME ABERRATION; UMBILICAL HERNIA; VELOCARDIOFACIAL SYNDROME; VOICE;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; CRANIOFACIAL ABNORMALITIES; HERNIA, UMBILICAL; HUMANS; LARYNX; MALE; PHARYNX; PHENOTYPE; SCOLIOSIS; SYNDROME;

EID: 33845235840     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31534     Document Type: Letter

References (3)

1. Shprintzen RJ, Goldberg RB. 1979. Dysmorphic facies, omphalocele, laryngeal and pharyngeal hypoplasia, spinal anomalies, and learning disabilities in a new dominant malformation syndrome. Birth Defects Orig Artic Ser XV:347-353.
2. Thomas JA, Graham JM. 1997. Chromosome 22q11 deletion syndrome: An update and review for the primary pediatrician. Clin Pediatr 36:253-266.
3. Zelante L, Germano M, Sacco M, Calvano S. 2006. Shprintzen-Goldberg omphalocele syndrome: A new patient with an expanded phenotype. Am J Med Genet Part A 140A:383-384.