| A Case of 2q-Syndrome [46, XX, del (2) (q33q35)]. |
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Dong Hyeon Choi, Eun Yeong Seol, Moon Ki Cho, Chel Shon |
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Department of Pediatrics, Mokpo Catholic Hospital, Mok-Po, Korea. |
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| Abstract |
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A long arm deletion of chromosome 2 is very rarely reported.
Particular deletion uniformly resulted in developmental delays, craniofacial changes, and occasionally resulted in microcephaly, low set ears, and hand and foot abnormalities.
We experienced a case of partial monosomy 2 in a 5-months-old girl, who showed low set ears, hypertelorism, low nasal bridges, small mouth, cleft palate, inguinal hernia.
Chromosome analysis on a G banding with high resolution showed a deletion of the long arm of chromosome 2. Her karyotype was designated as 46, XX, del (2) (q33q35).
A brief review of the literature is also presented. |
| Key Words:
Partial monosomy 2; Chromosome abnormality; Craniofacial changes |
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