A 22-year old female with the 9p deletion syndrome.
A 22-year old female patient with psycho-motor retardation, statural hypotrophy and clinical picture characteristic of the 9p deletion syndrome, i.e., trigonocephalia (corrected surgically), epicanthus, hypertelorism, long filtrum, micrognathia, low inserted and malformed ears, filiform fingers, is presented.
Ioan
D
D
C. I. Parhon Institute of Endocrinology, Bucharest, Romania.
Dumitriu
L
L
Ghergar
D
D
Pop
T
T
Ioaniţiu
D
D
Belengeanu
V
V
Maximilian
C
C
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9; D005124:Eye Abnormalities / Q000235:genetics; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D013933:Thumb / Q000002:abnormalities