BRIEF REPORT |
Dup(13)(q14.2-q14.3) : Yet Another New Differential Diagnostic Aspect for Short Staturelike Phenotype
Institute of Human Genetics and Anthropology, Jena, Germany (IS,AN,VB,AH,UC,TL), and Ambulance of Gynecology, Weimar, Germany (K-HE)
Correspondence to: Dr. Thomas Liehr, Institut für Humangenetik und Anthroplogie, Kollegiengasse 10, D-07743 Jena, Germany. E-mail: i8lith{at}mti.uni-jena.de
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Summary |
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Key Words: prenatal diagnosis FISH multicolor banding short stature chromosomal duplication
SHORT STATURE is a clinical symptom associated with many types of hereditary disorders and chromosomal rearrangements (for overview see, e.g., OMIM-database http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db = OMIM). At present, short stature is described in >560 syndromes, mainly as a symptom of complex diseases. Short stature is an almost universal feature of Turner syndrome, with patients having a mean adult height of up to 20 cm less than that of the general female population (Parvin et al. 2004).
We report on a case of a young, healthy pregnant women (CII) with hyposomia. CII was 23 years old and it was her first pregnancy. Short stature was remarkable in CII, with an adult height of only 146 cm. Her shortness was exceptional throughout her entire lifetime (Figure 1). Even though no other symptoms and no menstrual irregularities were observed, at the age of 8 years, CII was suspected of having Turner syndrome, because chromosome analysis revealed a very mild mosaic karyotype 46,XX/45,X (72/2). The young woman requested genetic counseling for a potential recurrence risk for her unborn child (CI) having a Turner syndrome. A normal fetal development was found at sonographic examination in 10 + 5 and 20 + 1 gestational weeks. In week 16 + 1, amniocentesis was performed and prenatal banding cytogenetics showed for CI a karyotype of 46,XX,dup(13)(q14q21); even a trisomy 13 was suspected after the prenatal rapid test (reported in Liehr et al. 2002a, case 1). Using multicolor banding(MCB) with a chromosome 13specific probe set (Liehr et al., 2002b
), the breakpoints could be refined to 13q14.2 and 13q21.1 (Figure 2). A chromosomal analysis of the parents revealed that the mother (CII) had the same unbalanced karyotype as the fetus (CI), caused by a de novo aberration in CII, as proven by exclusion of that aberration in her parents. In addition, a very mild Turner mosaic was found in CII (45,X,dup(13)(q14.2q21.1)[9]/46,XX,dup(13) (q14.2q21.1)[190]/47,XXX,dup(13)(q14.2q21.1)[1]. nuc ish(DXZ1 x 1)[21]/(DXZ1 x 2)[1476]/(DXZ1 x 3)[3]), a finding that is in concordance with the earlier analysis of CII during childhood. The partner of CII and her parents had normal karyotypes according to GTG banding analysis.
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To the best of our knowledge, no patients with the identical chromosomal aberration, a dup(13)(q14.2-q21.1), are described in the literature. However, cases suited to pinpoint the critical region for short stature on chromosome 13 were reported previously. Duplications of the chromosomal region 13q13-13q14 were described as compatible with a normal (Rivera et al. 1981; Strong et al. 1981
) or almost-normal phenotype (Turleau et al. 1983
). In addition, Hermann et al. (2000)
reported a dup(13)(q12q14) with short stature, heart defect, and developmental delay. On that basis, it can therefore be suggested that the critical "short stature region" of chromosome 13 is located in band q14.2-q14.3. However, this has to be confirmed by additional case reports.
In summary, this report presents another new differential diagnostic aspect for the short staturelike phenotype and underlines the importance of analyzing chromosomes in ambiguous cases.
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Acknowledgments |
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Footnotes |
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Literature Cited |
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