1/16. Partial monosomy 22 as the result of an unbalanced translocation 5:22 in a patient with cri-du-chat syndrome.A 2-year-old boy with features suggestive of cri-du-chat syndrome had a complex karyotype: 45,XY,--22,5p--,t(5p:22q). Clinical symptoms were catlike cry in early infancy, severe mental and motor retardation, failure to thrive, hypertelorism, antimongoloid slant of the eyes, ptosis of the eyelids, epicanthus, micrognathia, dermatoglyphics abnormalities, and partial syndactyly between 2nd and 3rd toes.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
2/16. tetrasomy Y by structural rearrangement: clinical report.Poly-Y karyotypes, except for 47,XYY, are rare events in humans. For instance, Y chromosome tetrasomy has been reported 10 times, 2 of which were by structural rearrangement. We present a 2-year-and-4-month-old boy who was referred for cytogenetic assessment because of global psychomotor delay. The GTG- and CBG-banded karyotypes on PHA-stimulated lymphocytes showed two cell populations, one of them contained two identical isodicentric Y chromosomes, which was seen in 93% of metaphases analyzed, and a 45,X cell line (7%). This was confirmed by FISH with probes DYZ3 (recognizing the centromeric region of the y chromosome), 91H4.5 (recognizing Yp11.2), and DYZ1 (recognizing Y heterochromatin in Yq12). The breakpoint has occurred near the telomeric end of the heterochromatic region. Therefore, the karyotype is mos 47,X,idic(Y)(q12)x2[123]/45,X[9]. This is the second time that such a karyotype has been reported. This chromosomal anomaly was formed most likely by a U-type exchange. Clinical features included speech delay, short stature, brachycephaly, large ears, bilateral epicanthal folds, hypertelorism, delayed teeth eruption, bilateral radio-ulnar synostosis, bilateral fifth finger clinodactyly, normal external genitalia, and impulsive behavior. The father had normal phenotype and karyotype. A review of the tetrasomy Y patients is presented. All patients with y chromosome tetrasomy exhibit some degree of mental retardation, various skeletal abnormalities, and facial dysmorphism. Nevertheless, the correlation between karyotype and phenotype is not yet well defined since few cases have been reported. This clinical report will be helpful in defining the phenotypic range associated with tetrasomy Y.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
3/16. Three cases of tetrasomy 9p.We report three cases of tetrasomy 9p, two of which were confirmed prenatally. All three had characteristic findings on ultrasound and at birth. We also present a review of the literature, which suggests that a recognizable phenotype for this condition is emerging. Common findings on prenatal ultrasound include intrauterine growth restriction, ventriculomegaly, cleft lip or palate, and renal anomalies. These findings can provide a clue toward the prenatal diagnosis of this condition. There is also a clearly recognizable phenotype at birth. Facial characteristics include hypertelorism, broad nasal bridge/bulbous or beaked nose, cleft lip/palate, ear anomalies, and micrognathia. The exact extent of the isochromosome does not seem to predict severity, but mosaic cases are less severe, or at least have a greater probability of survival.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
4/16. prenatal diagnosis of premature centromere division-related mosaic variegated aneuploidy.OBJECTIVES: To present the prenatal diagnosis of premature centromere division (PCD)-related mosaic variegated aneuploidy (MVA) and a review of the literature. CASE AND methods: A 33-year-old primigravida woman underwent amniocentesis at 22 weeks' gestation because of intrauterine growth restriction (IUGR), microcephaly, and oligohydramnios. amniocentesis revealed PCD-related MVA. Repeat amniocentesis two weeks later consistently showed PCD-related MVA. The pregnancy was terminated. The proband postnatally manifested dysmorphic facial features of microcephaly, hypertelorism, low-set ears, a broad nasal bridge, a thin upper lip, and overriding toes. At autopsy, the internal organs were unremarkable. Cytogenetic analyses of the cord blood, liver, lungs, skin, and placenta displayed PCD-related MVA in all tissues studied. The PCD frequencies for the cells in the amniotic fluid (first culture), amniotic fluid (second culture), cord blood, liver, lungs, skin, and placenta were 53.3%, 56.5%, 47.4%, 38.7%, 33.9%, 33.3%, and 40.8% respectively. CONCLUSION: The present case provides evidence that, in cases of pregnancy with PCD-related MVA, the cytogenetic result of the amniocytes correlates well with those of the fetal cells and chorionic villi cells. We suggest that prenatal sonographic detection of a complex of IUGR, microcephaly and oligohydramnios with or without central nervous system abnormalities should include a differential diagnosis of PCD-related MVA.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
5/16. prenatal diagnosis of de novo proximal interstitial deletion of 9q and review of the literature of uncommon aneuploidies associated with increased nuchal translucency.OBJECTIVES: To present the prenatal diagnosis and molecular cytogenetic analysis of de novo proximal interstitial deletion of 9q and to review the literature of uncommon aneuploidies associated with increased nuchal translucency (NT). CASE: Obstetric ultrasound at 11 weeks' gestation revealed an increased NT thickness of 6.6 mm in a 31-year-old primigravid woman. At 13 weeks' gestation, repeat ultrasound examinations revealed a normal NT thickness of 1.8 mm. The subcutaneous nuchal fluid accumulation was no longer present at the following ultrasound scans. An amniocentesis was performed at 18 weeks' gestation. RESULTS: cytogenetic analysis revealed a karyotype of 46,XX,del(9)(q21.1q22.2). The parental karyotypes were normal. At 21 weeks' gestation, a 442-g female fetus was delivered with low-set ears, hypertelorism, and a thick nuchal fold. The parental origin of the interstitial deletion of 9q was analyzed with polymorphic dna markers. With the microsatellite markers D9S238 (9q13), D9S889 (9q21.11), and D9S253 (9q22.2), two alleles inherited from the parents were seen in the proband, but with markers D9S1780 (9q21.31), D9S303 (9q21.32), D9S252 (9q21.33), and D9S316 (9q22.1), only one maternal allele was present. The deletion was of paternal origin. CONCLUSIONS: Fetuses with uncommon aneuploidies may manifest increased NT in the first trimester. The present case provides evidence for a correlation between increased NT and interstitial 9q deletion. Prenatal identification of increased NT should alert subtle structural chromosome aberrations and prompt high-resolution karyotyping.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
6/16. A case with mosaic partial duplication of 1q: prenatal and postmortem clinical and cytogenetic evaluations.Partial trisomy 1q including different segments of the long arm is a rare cytogenetic anomaly. Especially the cases with mosaic proximal tandem duplication of 1q included a longer fragment are very rare. Cases who have partial 1q trisomy showed large phenotypic variation due to the differences in size of the duplicated segments of 1q. The clinical phenotype of most cases is characterized by multiple congenital anomalies especially including central nervous system and developmental delay. We describe a prenatally diagnosed case with mild cerebral ventriculomegaly and karyotype with mosaic pure trisomy of chromosome 1q [(46,XX/46,XX,dup(1)(q21qter)]. Phenotypic postmortem examination showed cranial asymmetry, flat and broad nasal bridge, anteverted nostrils, hypertelorism, retrognathia, abnormal pinnae, hypoplasic thumbs, long fingers and toes, mediodorsal curvature of the 4th and 5th toes and posterior prominence of the heel was observed. autopsy confirmed the ventriculomegaly. Postmortem chromosome preparation from skin culture, cord blood and intracardiac blood confirmed the mosaic pure trisomy of chromosome 1q.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
7/16. Partial deletion of distal 17q.A newborn female was found to have a deletion of the terminal portion of 17q. Prominent manifestations included microcephaly, apparent hypertelorism, epicanthic folds, a broad nasal bridge with anteverted nostrils, posteriorly angulated ears, micrognathia, widely spaced nipples, arachnodactyly with proximal thumbs, and a coxa vara deformity. The unbalanced translocation was inherited from the mother, who had a reciprocal translocation involving the terminal portions of 2p and 17q. To the best of our knowledge, this is the first report of a liveborn infant with deletion of the distal portion of 17q with the exception of reports of patients with ring chromosome 17.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
8/16. Partial trisomy 7q and probable partial monosomy of 5p in the son of a mother with a reciprocal translocation between 5p and 7q.An underweight male newborn revealed a complex pattern of abnormal findings including severe neurologic dysfunction, a catlike cry, defective ossification of the calvarian bones, hypertelorism, downward slanting palpebral fissures, epicanthal folds, a short and flat nose with a flattened bridge, broad thumbs, clenched fingers 3--5 on the right hand, simian creases, a congenital heart defect, internal hydrocephalus, and bilateral hydronephrosis. He died on day 26 of his life. Chromosome examination disclosed a maternally inherited reciprocal translocation between 5p and 7q, resulting most probably in monosomy of 5p15 and trisomy of 7q32 leads to qter (46,XY,der(5), t(5;7)(p15;q32)mat).- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
9/16. Clinical features of monosomy 10qter.The authors report a 10qter deletion in a 16-month-old boy. The patient's phenotype includes: low birth weight, mental and growth retardation, triangular facies, hypertelorism, prominent nasal bridge, malformed and low set ears, cryptorchidism. The karyotype was 46,XY,del(10)(q26.1 leads to qter). cytogenetic analysis of both parents, including a search for the fragile site in the 10q25 region, were normal. The assignment of the human GOT structural gene to the 10q25.3 band is suggested.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
10/16. Cat eye syndrome owing to tetrasomy 22pter leads to q11.A case of tetrasomy 22pter leads to q11 with ocular hypertelorism, downward slanting palpebral fissures, total anomalous pulmonary venous return, and anal atresia is described. The phenotypic variability of the cat eye syndrome is emphasised along with the need for categorisation of these patients according to well characterised cytogenetic findings.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
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