Phenotype-genotype correlation in two patients with 12q proximal deletion

Journal of Human Genetics

Volumn 49, Issue 5, 2004, Pages 282-284

  Miyake, Noriko ^a,b   Tonoki, Hidefumi ^c   Gallego, Marta ^d   Harada, Naoki ^a,b,e   Shimokawa, Osamu ^e   Yoshiura, Koh Ichiro ^a,b   Ohta, Tohru ^b,f   Kishino, Tatsuya ^b,f   Niikawa, Norio ^a,b   Matsumoto, Naomichi ^a,g  

^a NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

^b JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^c HOKKAIDO UNIVERSITY   (Japan)

^d HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

^e Kyushu Medical Science Nagasaki Laboratory   (Japan)

^f NAGASAKI UNIVERSITY   (Japan)

^g YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

12q proximal deletion; Congenital anomaly; FISH mapping; Genotype phenotype correlation; Mental retardation

Indexed keywords

ARGENTINA; ARTICLE; ASIAN; CASE REPORT; CHROMOSOME 12Q; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLEFT PALATE; CLINICAL FEATURE; CLINODACTYLY; CORRELATION ANALYSIS; DATA BASE; EXTRAOCULAR MUSCLE; FIBROSIS; FINGER MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENOTYPE; GROWTH; HEARING LOSS; HIGH ARCHED PALATE; HISPANIC; HUMAN; HUMAN GENOME; JAPAN; LOW SET EAR; MENTAL DEFICIENCY; MYOFIBROSIS; NEWBORN; NIPPLE; NOSE MALFORMATION; PATHOGENESIS; PHENOTYPE; PREDICTION; PSYCHOMOTOR RETARDATION; STRABISMUS; SYMPTOM; TOE MALFORMATION;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 12; CLEFT PALATE; COLLAGEN TYPE II; DNA-BINDING PROTEINS; GENOTYPE; HEARING LOSS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KINESIN; MENTAL RETARDATION; MUSCLE PROTEINS; NERVE TISSUE PROTEINS; PHENOTYPE; REPRESSOR PROTEINS;

EID: 3042790884     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-004-0144-5     Document Type: Article

References (10)

1. Gallego M, Barreiro C, Perez M, Arroyo H, Menehem J (2000) A new case of interstitial 12q deletion. Int Pediatr 15:37-40
2. Kalenik JL, Chen D, Bradley ME, Chen SJ, Lee TC (1997) Yeast two-hybrid cloning of a novel zinc finger protein that interacts with the multifunctional transcription factor YY1. Nucleic Acids Res 25:843-849
3. Kuivaniemi H, Tromp G, Prockop DJ (1997) Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels. Hum Mutat 9:300-315
4. Kuja-Panula J, Kiiltomaki M, Yamashiro T, Rouhiainen A, Rauvala H (2003) AMIGO, a transmembrane protein implicated in axon tract development, defines a novel protein family with leucine-rich repeats. J Cell Biol 160:963-973
5. Meinecke P, Meinecke R (1987) Multiple malformation syndrome including cleft lip and palate and cardiac abnormalities due to an interstitial deletion of chromosome 12q. J Med Genet 24:187
6. Sathya P, Tomkins DJ, Freeman V, Paes B, Nowaczyk MJ (1999) De novo deletion 12q: report of a patient with 12q24.31q24.33 deletion. Am J Med Genet 84:116-119
7. Tonoki H, Saitoh S, Kobayashi K (1998) Patient with del(12)(q12q13.12) manifesting abnormalities compatible with Noonan syndrome. Am J Med Genet 75:416-418
8. Watson MS, McAllister-Barton L, Mahoney MJ, Breg WR (1989) Deletion (12)(q15q21.2). J Med Genet 26:343-344
9. Wilkin DJ, Artz AS, South S, Lachman RS, Rimoin DL, Wilcox WR, McKusick VA, Stratakis CA, Francomano CA, Cohn DH (1999) Small deletions in the type II collagen triple helix produce Kniest dysplasia. Am J Med Genet 85:105-112
10. Yamada K, Andrews C, Chan WM, McKeown CA, Magli A, de Berardinis T, Loewenstein A, Lazar M, O'Keefe M, Letson R, London A, Ruttum M, Matsumoto N, Saito N, Morris L, Del Monte M, Johnson RH, Uyama E, Houtman WA, de Vries B, Carlow TJ, Hart BL, Krawiecki N, Shoffner J, Vogel MC, Katowitz J, Goldstein SM, Levin AV, Sener EC, Ozturk BT, Akarsu AN, Brodsky MC, Hanisch F, Cruse RP, Zubcov AA, Robb RM, Roggenkaemper P, Gottlob I, Kowal L, Battu R, Traboulsi EI, Franceschini P, Newlin A, Demer JL, Engle EC (2003) Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFE-OM1). Nat Genet 35:318-321