Co-segregation of an apparently balanced reciprocal t(12;22)(p11.2;q13.3) with a complex type of 3/3'/4 synpolydactyly associated with metacarpal, metatarsal and tarsal synostoses in three family members [1]

Clinical Dysmorphology

Volumn 7, Issue 3, 1998, Pages 225-228

  Debeer, Ph ^a   Schoenmakers, E F P M ^a   De Smet, L ^a   Van De Ven, W J M ^a   Fryns, J P ^a  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

Author keywords

Synostoses; Synpolydactyly

Indexed keywords

CASE REPORT; CHROMOSOME 12P; CHROMOSOME 22Q; CHROMOSOME TRANSLOCATION 12; CHROMOSOME TRANSLOCATION 22; FAMILIAL DISEASE; FEMALE; HUMAN; LETTER; MALE; POLAND SYNDROME; PRIORITY JOURNAL; SYNOSTOSIS;

ANKLE; CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 22; FEMALE; HUMANS; MALE; METACARPUS; METATARSUS; SYNDACTYLY; TRANSLOCATION, GENETIC;

EID: 0031851734     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-199807000-00014     Document Type: Letter

References (5)

1. Akarsu NA, Stoilov I, Yilmaze E, Sayli BS, Sarfarazi M (1996). Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families. Hum Mol Genet 5:945-952.
2. Cenani A, Lenz W (1967). Totale Syndaktylie und totale radioulnare Synostose bei zwei Brüdern. Z Kinderheilk 101:181-190.
3. De Smet L, Debeer Ph, Fryns JP (1996). Cenani-Lenz syndrome in father and daughter. Genet Counsel 7:153-157.
4. Muragaki Y, Mundlos S, Upton J, Olsen BR (1996). Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science 272:548-551.
5. Temtamy S, McKusick KV (1978). The genetics of hand malformation. Birth Defects Original Article Series XIV(3):301-361. The National Foundation March of Dimes. New York: Alan R Liss Inc.