Partial trisomy of long arm of chromosome 4 as a result of dir dup (4)(q27q31.3) de novo.
The phenotype of a girl at age of 12 years with a partial trisomy 4q caused by unique direct duplication 4q27 --> q31.3 included the thick, broad and straight eyebrows, upward slanting palpebral fissures, a deep-set eyes, narrow bridge and long back of the nose, flattened philtrum columns, narrow of vermilion borders of both upper and lower lips, protrusion of maxillary alveolar processus and anterior teeth together with shortened and posteriorly situated mandible, malocclusion corresponding with II class of Angle and long fingers, narrowing towards distal phalanges has been described. Further investigations are needed to delineate the clinical spectrum of features essential for partial trisomy 4q.
Hubert
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Clinic of Maxillo-Facial Surgery, Medical Academy of Bialystok, Poland.
Sawicka
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A
Wasilewska
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E
Midro
A T
AT
D000015:Abnormalities, Multiple; D002648:Child; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D003582:Cytogenetics / Q000379:methods; D005260:Female; D020440:Gene Duplication; D006801:Humans; D007621:Karyotyping; D010641:Phenotype; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics*