| Interchange trisomy 9 due to maternal t(6;9) translocation. | |
| | |
MedLine Citation:
|
PMID: 7825455 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
The occurrence of interchange trisomy due to a 3:1 malsegregation has been documented in only a few cases with trisomy 21. We describe the first case of interchange trisomy 9 due to a maternal t(6:9) translocation. The patient, a boy neonate who died immediately after birth, had intra-uterine growth retardation, specific craniofacial features including microcephaly with a high forehead, low-set ears, upslanting short palpebral fissures, microphthalmia, bulbous nose and micrognathia, cryptorchidism, cystic kidney and various skeletal anomalies. His phenotype was consistent with that of the trisomy 9 syndrome. Cytogenetic analysis showed his karyotype of 47,XY,-6, + der(6), + der(9)t(6;9)(q27;q21.1)mat. The present report indicates that a very rare interchange mode of a 3:1 segregation can give rise to a live birth with full trisomy 9 in female carriers with reciprocal translocations involving the proximal long arm of chromosome 9. |
| | |
Authors:
|
S Ninomiya; K Narahara; Y Yokoyama; K Tsuji; S Ito; W Akahori; T Akahori; Y Seino |
Related Documents
:
|
2613375 - The accuracy of fetal echocardiography in the diagnosis of congenital heart disease. 6340445 - Polyhydramnios associated with fetal limb abnormalities. 7273465 - Trisomy 6qter. 14967375 - Poor prognosis of recurrent aborters with either maternal or paternal reciprocal transl... 3596975 - Synthetic prostheses in repair of chest wall defects after exeresis of malignancies. 7069485 - Nonsurgical approach to congenital scalp and skull defects. |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: Acta paediatrica Japonica; Overseas edition Volume: 36 ISSN: 0374-5600 ISO Abbreviation: Acta Paediatr Jpn Publication Date: 1994 Oct |
Date Detail:
|
Created Date: 1995-02-14 Completed Date: 1995-02-14 Revised Date: 2004-11-17 |
Medline Journal Info:
|
Nlm Unique ID: 0370357 Medline TA: Acta Paediatr Jpn Country: AUSTRALIA |
Other Details:
|
Languages: eng Pagination: 519-21 Citation Subset: IM |
Affiliation:
|
Department of Pediatrics, Okayama University Medical School, Japan. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adult Chromosomes, Human, Pair 6* Chromosomes, Human, Pair 9* Female Humans Infant, Newborn Karyotyping Male Translocation, Genetic* Trisomy* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Preschool sarcoidosis manifesting as juvenile rheumatoid arthritis: a case report and a review of th...
Next Document: Spinal muscular atrophy in trizygotic triplets.