PARTIAL TRISOMY 9p(p22→pter) FROM A
MATERNAL TRANSLOCATION 4q35 AND 9p22
Mahjoubi F1,2, Nasiri F1, Torabi R2
*Corresponding Author: Frouzandeh Mahjoubi, The Blood Transfusion Organization Research Center (IBTO),
Hemmat Express Way, Next to Milad Tower, Tehran, Iran; P.O Box: 14665-1157; Tel.: +9821-8860-1501-30;
Fax: +9821-8860-1555; E-mail: Frouz@nigeb.ac.ir
page: 61
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CASE REPORT
A 7-year-old female child was referred to our
laboratory for chromosome studies because of her hyperactivity.
Her weight was 16 kg (-2.732 SDS) and
her height was and 107 cm (-2.762 SDS) at the time
of examination. She was the only child and born from
consanguineous parents (second degree cousins), at
term by natural delivery. Her birth weight was 2600
g (–1.834 SDS). She had developmental delay at all
developmental stages including lifting her head, sitting
up and speech.
Examination revealed hair growth down to her
eyebrow region, an unusually big mouth and normal
tongue, protrusion of the forehead bones, protrusion
of the left bridge nose, and protrusion of the left upper
lip. She also had a mild hearing impairment. She was
mentally retarded and needed to attend special school
(IQ had not been measured).
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