Survival up to age 10 years in a patient with partial duplication 6q: Case report and review of the literature

Clinical Dysmorphology

Volumn 14, Issue 1, 2005, Pages 51-54

  Seel, Cornelia ^a   Hager, Hans Dieter ^a   Jauch, Anna ^a   Tariverdian, Gholamali ^a   Zschocke, Johannes ^a,b  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

Chromosome aberration; Duplication 6q; Growth retardation; Malformation syndrome; Mental retardation

Indexed keywords

AMNIOCENTESIS; CASE REPORT; CHROMOSOME 6P; CHROMOSOME DUPLICATION; CLEFT LIP; CLEFT PALATE; CLINICAL FEATURE; DISEASE COURSE; FAILURE TO THRIVE; FEEDING DISORDER; FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; HEART ATRIUM SEPTUM DEFECT; HUMAN; HYPERTELORISM; INGUINAL HERNIA; INTRAUTERINE GROWTH RETARDATION; JOINT CONTRACTURE; KIDNEY DYSPLASIA; KIDNEY HYPOPLASIA; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MUSCLE HYPOTONIA; PATENT DUCTUS ARTERIOSUS; PRIORITY JOURNAL; REVIEW; SCHOOL CHILD; SURVIVAL TIME; UPWARD PALPEBRAL SLANT;

CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 6; HUMANS; INFANT; INFANT, NEWBORN; MALE; SURVIVAL; TRANSLOCATION, GENETIC;

EID: 13244268612     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200501000-00013     Document Type: Review

References (9)

1. Dellacasa P, Bonanni P, Guerrini R (1993). Partial trisomy of the long arm of chromosome 6. A clinical case. Minerva Pediatr 45:517-521.
2. D'Emma C, Crippa L, Delozier C, Michail E, Graber P (1982). Familial observation of partial trisomy 6, and probable partial monosomy 18q by parental translocation. J Genet Hum 30:39-50.
3. Enriquez-Guerra MA, Rivera H, Moller M, Castillo-Sanchez H, Cantu JM (1986). Trisomy 6qter resulting from familial (6; 10) (q23; q26) translocation. J Genet Hum 34:327-330.
4. Gorlin RJ, Cohen MM, Hennekam RCM (2001). Syndromes of the head and neck. Oxford: Oxford University Press.
5. Luke S, Bennett HS, Pitter JH, Verma RS (1992). A new case of monosomy for 17q25qter due to a maternal translocation [t(3;17)(p12;q24)]. Ann Genet 35:48-50.
6. Pivnick EK, Qumsiyeh MB, Tharapel AT, Summitt JB, Wilroy RS (1990). Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome. J Med Genet 27:523-526.
7. Schinzel A (2001). Catalogue of unbalanced chromosome aberrations in man. Berlin: de Gruyter.
8. Tipton RE, Berns JS, Johnson WE, Wilroy RS. Jr, Summitt RL (1979). Duplication 6q syndrome. Am J Med Genet 3:325-330.
9. Uhrich S, FitzSimmons J, Easterling TR, Mack L, Disteche CM (1991). Duplication (6q) syndrome diagnosed in utero. Am J Med Genet 41:282-283.