Balkan Journal of Medical Genetics

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

CYTOGENETIC STUDY

Cytogenetic analysis of phytohemagglutinin (PHA)-stimulated peripheral blood leukocytes was performed using a standard protocol [2] and additional material on the short arm of chromosome 9 was detected in all cells analyzed (Figure 1A). Chromosomal analysis of her father revealed a normal karyotype but that of her mother had an apparently balanced translocation between chromosomes 4 and 9 [46,XX,t(4;9) (q35;p22)] (Figure 1B). The patient’s karyotype was ascertained to be 46,XX,dec(4)t(4;9)(q35; p22)mat. Many patients with duplications and trisomies of 9p have been reported. These are summarized in Table 1. The female patient of Jelin et al. [3] had microcephaly and an incomplete bilateral cleft lip and palate, bilateral single palmar creases, and fifth digit brachydactyly; cytogenetic analysis revealed a partial trisomy 9p21.1→9pter and a deletion of 9p12.1 to 9p11.2. The male patient of Rossi et al. [4] had a partial trisomy of the 9p24 region and presented with oropharyngeal dysphagia and the common clinical signs of trisomy 9p syndrome such as microcephaly, micrognathy, brachycephaly, bulbous nose, down turned oral commissures, malformed ears and feet, and hypotonia. The six patients of Wang et al. [5]reported a proband with a partial trisomy 9p as a result of a translocation between chromosome 4q35 and 9p22. The cases had mild facial and little finger anomalies and mental retardation. The five patients reported by Temtamy et al. [6] had de novo trisomy/duplication of 9p between regions p21 and p24 and exhibited growth retardation, severe intellectual disability, high broad forehead, low-set ears, hypertelorism with downslanting palpebral fissures, bulbous nose, down turned corners of the mouth, and hand and foot anomalies. A boy with a extra segment of the end of chromosome 9p from a maternally-inherited translocation t(4;9) (q31;p24) had mental retardation, delayed motor development (in holding up head, sitting, walking and speech) and facial dysmorphisms included long slant of palpebral fissures, broad space between the eyes, depressed nasal bridge, a globular nose with small nares and long philtrum [7]. Trisomy 9p has also been reported in adult and even elderly people. For example, Ricart and Pareja [8] reported on a 50-year-old mentally retarded woman with dysmorphic facies, severe cerebral malformations, limb deformities, retarded sexual maturation. Partial trisomy 9p cases have also been reported in prenatal patients. These include a fetus with a duplication of the 9p22.1p24 chromosomal region and many common features of trisomy 9p such as major growth retardation, microcephaly and microretrognathia[9] and a fetus with partial trisomy 9p (9pter→p11.2) who exhibited Dandy-Walker malformation and ventriculomegaly on prenatal ultrasound in the second trimester. In the third case referred to Chen et al. [10], suggested that a dosage effect of genes located on 9pter→p11.2 may be associated with abnormal development of the central nervous system in patients with partial or complete trisomy 9. In general, the results of Panasiuk et al. [11] on carriers with a breakpoint position at 9p22, at 9p13 and at 9p11.2 showed that reciprocal chromosome translocations involving the short arm of chromosome 9 as a risk factor of unfavorable pregnancy outcomes. There are other reports that confirm facial malformations in trisomy 9p patients[12-22]. From the data presented in Table 1, we suggest investigation of the 9p24 region for genes that could be responsible for some of the facial malformations such as those of the nose, mouth and ear, as in our patient, and in many cases with the partial trisomy 9p24. We also suggest that a region in 9p may contain a gene(s) responsible for the common features of partial trisomy/duplication 9p such as antimongoloid eye slant, abnormal ears, a globulous nose and downward-slanting mouth.

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