Potocki-Lupski syndrome: An inherited dup(17)(p11.2p11.2) with hypoplastic left heart

American Journal of Medical Genetics, Part A

Volumn 155, Issue 2, 2011, Pages 367-371

  Yusupov, Roman ^a,b   Roberts, Amy E ^a,b   Lacro, Ronald V ^a,b   Sandstrom, Mary ^c   Ligon, Azra H ^b,c  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

Cytogenetic; Dup(17)(p11.2p11.2); Duplication; Hypoplastic left heart; Inherited; Potocki Lupski syndrome

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 11P; CHROMOSOME BANDING PATTERN; CHROMOSOME DUPLICATION; CHRONIC LUNG DISEASE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HYPOTHYROIDISM; FACE DYSMORPHIA; FEEDING DISORDER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FONTAN PROCEDURE; GASTROESOPHAGEAL REFLUX; GENETIC DISORDER; HEART RIGHT VENTRICLE FAILURE; HUMAN; HYPERTENSION; HYPOPLASTIC LEFT HEART SYNDROME; MICROCEPHALY; MICROGNATHIA; MITRAL VALVE ATRESIA; MUSCLE HYPOTONIA; PATENT DUCTUS ARTERIOSUS; PERCEPTION DEAFNESS; PHENOTYPE; POTOCKI LUPSKI SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROGNATHIA; STRABISMUS; VESICOURETERAL REFLUX; VOMITING;

CHILD, PRESCHOOL; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HUMANS; HYPOPLASTIC LEFT HEART SYNDROME; IN SITU HYBRIDIZATION, FLUORESCENCE; PHENOTYPE; SMITH-MAGENIS SYNDROME;

EID: 79251495797     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33845     Document Type: Article

References (12)

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