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A 12 Mb deletion of 6p24.1 → pter in an 18-gestational-week fetus with orofacial clefting, the Dandy–Walker malformation and bilateral multicystic kidneys
European journal of medical genetics, 2009-01, Vol.52 (1), p.59-61
2009

Details

Autor(en) / Beteiligte
Titel
A 12 Mb deletion of 6p24.1 → pter in an 18-gestational-week fetus with orofacial clefting, the Dandy–Walker malformation and bilateral multicystic kidneys
Ist Teil von
  • European journal of medical genetics, 2009-01, Vol.52 (1), p.59-61
Ort / Verlag
Amsterdam: Elsevier Masson SAS
Erscheinungsjahr
2009
Link zum Volltext
Quelle
Elsevier ScienceDirect Journals
Beschreibungen/Notizen
  • Abstract We report an 18-gestational-week fetus with oligohydramnios, orofacial clefting, bilateral multicystic kidneys and the Dandy–Walker malformation. Characteristic craniofacial features include a turricephalic prominent forehead, hypertelorism, low-set ears, a flat nasal bridge, mid-face hypoplasia, bilateral cleft lip and palate, and a thick nuchal fold. Array-comparative genomic hybridization (CGH) analysis demonstrated a 12 Mb deletion of 6p24.1 → pter.
Sprache
Englisch
Identifikatoren
ISSN: 1769-7212
eISSN: 1878-0849
DOI: 10.1016/j.ejmg.2008.11.003
Titel-ID: cdi_pubmed_primary_19049908
Format
–
Schlagworte
Array-CGH, Biological and medical sciences, Chromosome aberrations, Chromosome Deletion, Chromosomes, Human, Pair 6, Classical genetics, quantitative genetics, hybrids, Cleft Lip - genetics, Cleft Palate - genetics, Comparative Genomic Hybridization, Dandy-Walker Syndrome - genetics, Dandy–Walker malformation, Distal 6p deletion, Face - abnormalities, Female, Fetus - abnormalities, FOXC1, Fundamental and applied biological sciences. Psychology, General aspects. Genetic counseling, Genetics of eukaryotes. Biological and molecular evolution, Gestational Age, Human, Humans, Malformations of the nervous system, Medical Education, Medical genetics, Medical sciences, Multicystic dysplasia of the kidneys, Multicystic Dysplastic Kidney - genetics, Neurology, OFC1, Orofacial clefting, Pregnancy, Pregnancy Trimester, Second, Prenatal diagnosis, Skull - abnormalities

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