'Severe' Prader-Willi syndrome with a large deletion of chromosome 15 due to an unbalanced t(15, 22)(q14;q11.2) translocation [4]

Clinical Genetics

Volumn 63, Issue 1, 2003, Pages 79-81

  Matsumura, M ^b   Kubota, Takeo ^a   Hidaka, E ^b   Wakui, K ^b   Kadowaki, S ^b   Ueta, I ^b   Shimizu, T ^b   Ueno, I ^b   Yamauchi, K ^b   Herzing, L B ^b   Nurmi, E L ^b   Sutcliffe, J S ^b   Fukushima, Y ^b   Katsuyama, T ^b  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME MAP; CHROMOSOME TRANSLOCATION 15; CHROMOSOME TRANSLOCATION 22; CRYPTORCHISM; DISEASE SEVERITY; EAR MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; HOMOLOGOUS RECOMBINATION; HUMAN; HYPOPIGMENTATION; INTRAUTERINE GROWTH RETARDATION; KIDNEY FAILURE; LETTER; MALE; MICROGNATHIA; PATENT DUCTUS ARTERIOSUS; PRADER WILLI SYNDROME; PRIORITY JOURNAL; CHROMOSOME 15; GENE TRANSLOCATION; GENETICS; GENOME IMPRINTING; INFANT; NEWBORN;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 15; FETAL GROWTH RETARDATION; GENOMIC IMPRINTING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; MALE; PRADER-WILLI SYNDROME; TRANSLOCATION, GENETIC;

EID: 0037741048     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2003.630114.x     Document Type: Letter

References (10)

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