A girl with duplication 9q34 syndrome.
We report on a 17-year-old female with numerous developmental abnormalities associated with 46,XX,dup(9)(q33.3q34.1), where the duplication occurred de novo. The patient presented with dysmorphic features and notable psychomotor delays, manifestations similar to those described in other reported cases of duplication of 9q34-qter. Due to late presentation and diagnosis, our patient was not evaluated and characterized until adolescence, when particular attention was paid to the development of secondary sexual characteristics, secondary amenorrhea and obesity.
Gawlik-Kuklinska
Katarzyna
K
Department of Biology and Genetics, Medical University, Gdańsk, Poland.
Iliszko
Mariola
M
Wozniak
Agnieszka
A
Debiec-Rychter
Maria
M
Kardas
Iwona
I
Wierzba
Jolanta
J
Limon
Janusz
J
D000293:Adolescent; D000568:Amenorrhea / Q000235:genetics; D002869:Chromosome Aberrations; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009765:Obesity / Q000235:genetics; D013577:Syndrome