Pitt-Rogers-Danks syndrome: The result of a 4p microdeletion

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 66, Issue 1, 1996, Pages 95-100

  Clemens, Michele ^a,c   Martsolf, John T ^e   Rogers, John G ^f   Mowery Rushton, Patricia ^a,b   Surti, Urvashi ^a,b,d   McPherson, Elizabeth ^a,c  

^a UNIVERSITY OF PITTSBURGH   (United States)

^b UNIVERSITY OF PITTSBURGH   (United States)

^c UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^d UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF NORTH DAKOTA SCHOOL OF MEDICINE AND HEALTH SCIENCES   (United States)

^f ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

4p microdeletion; Fluorescence in situ hybridization; Pitt Rogers Danks syndrome; Wolf Hirschhorn syndrome

Indexed keywords

CANIS;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME BAND; CHROMOSOME DELETION 4; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; PHENOTYPE; PRIORITY JOURNAL; WOLF HIRSCHHORN SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOMES, HUMAN, PAIR 4; DNA PROBES; FACE; FEMALE; GENE DELETION; GENETIC MARKERS; GROWTH DISORDERS; HUMANS; INFANT; MALE; MENTAL RETARDATION; SYNDROME;

EID: 0029950493     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19961202)66:1<95::aid-ajmg26>3.0.co;2-k     Document Type: Article

References (10)

1. Altherr MR, Bengtsson U, Elder FFB, Ledbetter DH, Wasmuth JJ, McDonald ME, Gusella JF, Greenberg F (1991): Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. Am J Hum Genet 49:1235-1242.
2. Dallapiccola B, Mandich P, Bellone E, Selicorni A, Mokin V, Ajmar F, Novelli G (1993): Parental originof chromosome 4p deletion in Wolf-Hirschhorn syndrome. Am J Med Genet 47:921- 924.
3. Donnai D (1986): Brief clinical report: A further patient with the Pitt-Rogers-Danks syndrome of mental retardation, unusual face and intrauterine growth retardation. Am J Med Genet 24:29-32.
4. Estabrooks LL, Rao KW, Driscoll DA, Crandall BF, Dean CS, Ikonen E, Korf B, Aylsworth AS (1995): Preliminary phenotypic map of chromosome 4p 16 based on 4p deletions. Am J Med Genet 57:581-586.
5. Lizcano LA, Garcia-Cruz D, Garcia-Cruz O, Sanchez-Corona J (1995): Pitt-Rogers-Danks syndrome: Further delineation. Am J Med Genet 55:420-422.
6. Oorthuys JWE, Bleeker-Wagemakers EM (1989): A girl with the Pitt-Rogers-Danks syndrome. Am J Med Genet 32:140-141.
7. Pitt DB, Rogers JG, Danks DM (1984): Mental retardation, unusual face and intrauterine growth retardation: A new recessive syndrome? Am J Med Genet 19:307-313.
8. Somer M, Peippo M, Keinanen M (1995): Controversial findings in two patients with commercially available probe 4DS96 for the Wolf-Hirschhorn syndrome. Am J Hum Genet 57(supp):A127.
9. White DM, Piliers DM, Reiss JA, Brown MG, Magenis RE (1995): Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation. Am J Med Genet 57:588-597.
10. Wright TJ, Denison K, Altherr MR (1995): Redefinition and molecular analysis of the critical region for the Wolf-Hirschhorn syndrome locus. Am J Hum Genet 57(supp): A233.