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Abstract
Trisomy 9p is one of the most frequent autosomal anomalies compatible with a long survival rate. Clinical characteristics are craniofacial dysmorphisms including hypertelorism, prominent nose, deep-set eyes, and down-slanting palpebral fissures. The degree of clinical severity in trisomy 9 roughly correlates with the extent of trisomic chromosomal material. If the trisomic segments include the long arm of chromosome 9, clinical findings may not fit into the trisomy 9p but rather resemble trisomy 9 mosaic syndrome and are associated with muscular and cardiac anomalies. Therefore, breakpoints as well as clinical findings need to be precisely defined for differential diagnosis. Cases with trisomy 9p, especially involving proximal 9q, are very rare in Korea. The patient was a 1,920 g male infant born at 36 weeks 3 days of gestation to a 27-yr-old mother and 32-yr-old father after Cesarian section. The patient showed specific craniofacial anomalies, cardiac defects, and hand anomalies. Routine cytogenetic analysis, performed on peripheral blood using GTG banding, showed 46,XY,+der(9)t (9;21)(q13;q21),-21pat. Furthermore, FISH (Vysis Inc., USA) analysis with whole chromosome painting probes confirmed the derivative chromosome 9.
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Fig. 1.
(A) The G-banded karyotype of the patient showing a unbalanced translocation between the long arms of chromosomes 9 and 21, resulting in partial trisomies for 9p and proximal 9q and partial monosomies for 21p and proximal 21q (arrows). (B) The G-banded karyotype of the patient's father showing a 46,XY,t(9;21)(q13;q21) (arrows).
Fig. 2.
Whole chromosome painting FISH analysis of metaphase chromosome from the patient. Terminal portion of the long arm of a derivative chromosome 9 was positively stained with the chromosome 21 painting probe.
Table 1.
Comparison of clinical findings of trisomy 9p previously described in the literatures and the patient presented here
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