Trisomy 7p: Report of 2 patients and literature review

Genetic Counseling

Volumn 11, Issue 4, 2000, Pages 347-354

  Arens, Y H J M ^a   Toutain, A ^a   Engelen, J J M ^a   Offermans, J P M ^a   Hamers, A J H ^a   Schrander, J J P ^a   Pulles Heintzberger, C F M ^a   Schrander Stumpel, C T R M ^a  

^a Department of Clinical Genetics   (Netherlands)

Author keywords

Mental retardation; Trisomy 7p

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 7P; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FEMALE; HUMAN; MALE; PHENOTYPE; PRESCHOOL CHILD; TRISOMY 7;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 7; CYTOGENETIC ANALYSIS; FEMALE; HUMANS; INFANT, NEWBORN; KARYOTYPING; MALE; TRISOMY;

EID: 0034531625     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

1. Trisomy 7p: Association with several craniocerebral anomalies and spongy degeneration
2. Duplication of 7p21.2→pter due to maternal 7p;21q translocation: Implications for critical segment assignment in the 7p duplication syndrome
3. Partial trisomy of the short arm of chromosome 7 due to a familial translocation rcp(7;14)(p11;p11)
4. Chromatid interchange resulting in duplication of the short arm of chromosome number 7 in man
5. Unusual chromosomal mosaic (46,XX/46,XX, Cp+) in a girl with multiple malformations
6. Trisomy 7p resulting from isochromosome formation and whole-arm translocation
7. Familial, balanced insertional translocation of chromosome 7 leading to off-spring with deletion and duplication of the inserted segment, 7p15 leads to 7p21
8. Partial trisomy 7p in two families resulting from different balanced translocations
9. Duplication 7p in a family with t(7;11): Association with anomalies of the anterior cranial base
10. Further delineation of 7p trisomy. Case report and review of literature
11. De novo direct duplication 7p(p11.2→pter) in an arab child with MCA/MR syndrome: Trisomy 7p a delineated syndrome?
12. Caracteres cliniques et cytogenetiques d'un cas de trisomie 7p derivee d'une translocation maternelle t(X;7)
13. Duplication 7p de novo and literature review