A case of del(13)(q22) with multiple major congenital anomalies, imperforate anus and penoscrotal transposition

Yonsei Medical Journal

Volumn 42, Issue 5, 2001, Pages 558-562

  Chung, Jae Lim ^a   Choi, Jong Rak ^a   Park, Min Soo ^a   Choi, Seung Hun ^a  

^a Yonsei University College of Medicine   (South Korea)

Author keywords

Chromosomes 13; Deletion; Imperforate anus; Penoscronal transposition

Indexed keywords

ADIPOSE TISSUE; ANUS ATRESIA; ARTICLE; AUTOPSY; BIRTH WEIGHT; BRAIN MALFORMATION; CASE REPORT; CESAREAN SECTION; CHOLESTASIS; CHROMOSOME 13Q; CHROMOSOME DELETION 13; CLINICAL EXAMINATION; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; CONTROLLED STUDY; CYTOGENETICS; DOLICHOCEPHALY; ECHOGRAPHY; FACE MALFORMATION; GENITAL MALFORMATION; GESTATIONAL AGE; GIEMSA STAIN; GROWTH RETARDATION; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HUMAN CELL; HYPOSPADIAS; INFANT; KARYOTYPE 46,XY; KIDNEY TUBULE NECROSIS; KOREA; LIMB MALFORMATION; LUNG MALFORMATION; LYMPHANGIECTASIS; MALE; MENTAL DEFICIENCY; METAMORPHOSIS; MICROGNATHIA; NEWBORN DEATH; NOSE MALFORMATION; PALATE MALFORMATION; PATENT DUCTUS ARTERIOSUS; PENOSCROTAL TRANSPOSITION; PERIPHERAL LYMPHOCYTE; RETINOBLASTOMA; SYNDACTYLY; SYNDROME; TELECANTHUS; THUMB MALFORMATION; X CHROMOSOME;

EID: 0035173799     PISSN: 05135796     EISSN: None     Source Type: Journal    
DOI: 10.3349/ymj.2001.42.5.558     Document Type: Article

References (15)

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