1/73. Bilateral renal agenesis and fetal ascites in association with partial trisomy 13 and partial trisomy 16 due to a 3:1 segregation of maternal reciprocal translocation t(13;16)(q12.3; p13.2).A female fetus with bilateral renal agenesis and fetal ascites was found to have partial trisomy 13 (pter-q12.3) and partial trisomy 16 (p13.2-pter), 47,XX, der(13)t(13;16)(q12.3; p13.2)mat. The chromosomal aberration was due to a 3:1 segregation with tertiary trisomy transmitted from a maternal reciprocal translocation 13;16. Prenatal ultrasound of a 29-year-old, gravida 2, para 0 woman at 22 gestational weeks showed fetal ascites, severe oligohydramnios and non-visualization of fetal urinary bladder and kidneys. The pregnancy was terminated. At delivery, the proband displayed dysmorphic features of hypertelorism, a prominent glabella, epicanthic fold, a stubby nose with a depressed nasal bridge, anteverted nares, thin lips, micrognathia, low-set ears, a short neck and a distended abdomen. Necropsy confirmed bilateral renal agenesis and ascites. A cytogenetic study performed on fibroblasts obtained from the proband's skin revealed an extra supernumerary chromosome. The mother was later found to have a reciprocal translocation. fluorescence in situ hybridization for a submicroscopic deletion in chromosome 22q11 in the proband was negative. The parents had no urological anomalies. Our observation further extends the clinical spectrum associated with proximal trisomy 13q and distal trisomy 16p. We suggest prenatal cytogenetic analysis in fetuses with urological anomalies, including renal agenesis, to uncover underlying genetic disorders.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
2/73. trisomy 7p resulting from 7p15;9p24 translocation: report of a new case and review of associated medical complications.The authors report on a young girl with generalized developmental deficits originally thought to be caused by an unusual reaction to DPT vaccination. At the age of 4(1/2) years, chromosome analysis showed that the terminus of the short arm of chromosome 9 had extra material believed to originate from 7p terminus, thus she was considered to be trisomic for a segment of 7p and monosomic for a small portion of 9p [46,XX,der (9), t(7;9)(p15;p24)]. Ten years later, molecular cytogenetic testing using fluorescence in situ hybridization (FISH) confirmed that the extra chromosomal material represented partial trisomy 7p. The proposita had a high and large forehead, hypertelorism, and broad nasal bridge, findings seen in most individuals with trisomy 7p. Long-term follow-up showed the presence of hypothyroidism, obesity, and cerebral palsy. A review of all published cases of trisomy 7p with focus on associated complications suggests a well-defined pattern of abnormalities characterized by musculoskeletal, cardiovascular, neurological, genital, and ocular abnormalities in decreasing frequency. At least one-third of affected individuals died in infancy and close to half had severe mental retardation. FISH was essential in the confirmation of the cytogenetic abnormality and further delineation of the chromosomal disorder.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
3/73. trisomy 19 q.Two sibs with trisomy for the long arm of chromosome 19 are reported. The common features included flat facial profile with microcephaly, hypertelorism, ptosis, prominence of the glabella, small nose with anteverted nostrils and a characteristic fish-shaped mouth. In addition congenital heart disease, physical retardation and seizures were seen in both sibs. That tristomy 19q can be suspected clinically is emphasized.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
4/73. Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus.We report on a three-month-old boy with a 46,XY,der(Y)t(Y;7)(p11.32;p15.3) karyotype and growth deficiency, postnatal microcephaly with large fontanels, wide sagittal and metopic sutures, hypertelorism, choanal stenosis, micrognathia, bilateral cryptorchidism, hypospadias, abnormal fingers and toes, and severe developmental delay. FISH studies showed partial trisomy 7p resulting from a de novo unbalanced translocation. The application of molecular probes from the TWIST gene region (7p15.3-p21.1) and probes from the pseudoautosomal region (PAR) demonstrated that the 7p15.3-pter fragment was translocated onto Yp with the breakpoint within approximately 20 kb from the Yp telomere. We discuss the possible role of the TWIST gene in abnormal skull development and suggest that trisomy 7p cases with delayed closure of fontanels can be a result of TWIST gene dosage effect.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
5/73. prenatal diagnosis of der(11)t(11;18)(q24;q21.3) due to paternal balanced translocation and both parents are carriers of alpha-thalassemia-1--a case report.A couple were identified as alpha-thalassemia-1 carriers (father: alpha-thal-1 of Filipino type, mother: alpha-thal-1 of SEA type). amniocentesis was done at 19 weeks of gestation by a local obstetrician. Molecular study of amniotic fluid presented a non-thalassemia fetus, but the cytogenetic study revealed a karyotype of 46,XX,der(11)t(11;18)(q24;q21.3), resulting from a paternal balanced reciprocal translocation and unbalanced adjacent 1 segregation. The pregnancy was terminated at 23 weeks of gestation. The gross of fetus revealed bilateral cleft lip and palate, hypertelorism, flat nasal bridge, frontal bossing, micrognathia, low set ears, short neck with cystic hygroma, overlapping fingers, prominent heels, and limited hip abduction. The chromosome complement of the present case was partial monosomy for 11q24-qter and partial trisomy for 18q21.3-qter. This is the first prenatal diagnosis of unbalanced translocation with der(11)t(11;18)(q24;q21.3) pat due to paternal balanced translocation and both parents being carriers of alpha-thalassemia-1.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
6/73. A case of extra small acrocentric bisatellited chromosome in a non mongoloid child.A mentally retarded child with an extra small bisatellited acrocentric chromosome is described. The patient exhibited rather unspecific clinical signs such as strabismus, marked facial asymmetry, broad and prominent nasal bridge, hypertelorism, Brushfield's spots, malformed ears with atresia of the external auditory canal on the right side. Giemsa banding (R and G methods) did not allow a clear cytogenetic identification of the extra-chromosome. A tentative interpretation of the cytogenetic aberration as a trisomy of the proximal part of the long arm of chromosome 13 is discussed.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
7/73. Subtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms.The recent development of a set of chromosome-specific, subtelomeric probes has proved useful in diagnosis and recurrence risk counseling of patients and families with mental retardation and in further characterization of known chromosomal abnormalities. Cases of cryptic, subtelomeric rearrangements may account for up to 7.5% of cases of idiopathic moderate-severe mental retardation. We present the molecular cytogenetic studies of trisomy 14q detected by subtelomeric fluorescence in situ hybridization (FISH). Our patient is a 3-year-old girl with growth and developmental delay, myelomeningocele, partial agenesis of the corpus callosum, hypertelorism, tented mouth, simple ears, small mandible, and congenital heart disease (atrial and ventricular septal defects with subaortic conus). G-banded chromosome analysis was apparently normal. A set of FISH-based, subtelomeric, region-specific probes revealed trisomy for 14q in the child. Parental FISH studies established that the mother is a balanced carrier for a half-cryptic translocation between the distal long arm of chromosome 14 and the short arm of chromosome 22. FISH analysis using two BAC clones that contain the imprinted genes MEG3 and DLK1, which localize to 14q32, established that our patient has two maternal copies of these genes. Because the child does not have features of the maternal UPD 14 syndrome, this case suggests that it is absence of expression of a paternally expressed gene, rather than overexpression of a maternally expressed gene, that is responsible for the maternal UPD 14 phenotype.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
8/73. prenatal diagnosis of double autosomal mosaicism (47,XX, 8/47,XX, 14): phenotype and molecular cytogenetic analysis on different tissues.A female fetus with multiple congenital anomalies was found to have double autosomal mosaicism, 47,XX, 8/ 47,XX, 14 on chromosome analysis via amniocentesis. At delivery, the proband displayed dysmorphic features of hypertelorism, micrognathia, low set ears, cleft palate, clubfeet, omphalocele, absent gallbladder and congenital heart defects. fluorescence in situ hybridization demonstrated a marked discrepancy in cell line populations in the tissues examined.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
9/73. Perinatal findings and molecular cytogenetic analysis of trisomy 16q and 22q13.3 deletion.OBJECTIVES: To present the perinatal findings and molecular cytogenetic analysis of a case with concomitant trisomy 16q and 22q13.3 deletion of paternal origin. CASE AND methods: A 24-year-old pregnant woman was referred at 30 weeks' gestation for suspected fetal abnormalities. Sonographic examination revealed decreased fetal movement, dolicocephaly, an asymmetric skull, and intrauterine growth restriction. Prenatal karyotyping was suggested but was declined. A female baby was delivered vaginally at 39 weeks' gestation with a body weight of 2180 g. The neonate presented generalized hypotonia with frequent apneic episodes and died at 1.5 months of age. Additional physical abnormalities included epicanthal folds, ptosis, frontal bossing with an enlarged metopic suture, bitemporal narrowing, hypertelorism, epicanthal folds, a pointed chin, micrognathia, prominent ears with preauricular pits, and clinodactyly. The karyotype from peripheral blood lymphocytes was 46,XX,der(22)t(16;22)(q12.1;q13.3)pat. The microdeletion at 22q13.3 was investigated by fluorescent in situ hybridization (FISH) analysis using the LSI DiGeorge/VCFS region/ARSA dual color DNA probe and the 22q telomeric probe, of which only the latter was able to detect the subtle deletion. Molecular analysis using polymorphic microsatellite markers indicated that the breakpoint at 22q13.31 was located between loci D22S1171 (present) and D22S1168 (absent). CONCLUSION: The use of LSI DiGeorge/VCFS region/ARSA dual color dna probes to examine distal 22q would miss some subtle terminal deletions of 22q13. However, the use of 22q telomeric probes would detect these minute deletions. Fetuses having trisomy 16q and 22q13.3 deletion may prenatally manifest decreased fetal movement, dolicocephaly, an asymmetric skull, and intrauterine growth restriction and postnatally present generalized hypotonia with frequent apneic episodes.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
10/73. De novo 1q32q44 duplication and distal 1q trisomy syndrome.We report on an infant with minor anomalies and a de novo 1q duplication. The chromosomal abnormality was diagnosed prenatally after sonographic detection of cerebral ventriculomegaly and bilateral choroid plexus cysts in the fetus. The amniocentesis showed an abnormal male karyotype, 46,XY,dup(1)(q32q44), subsequently confirmed by fluorescence in situ hybridization using whole chromosome paint 1 and comparative genomic hybridization. The baby, born at 37 weeks of gestation, had wide cranial sutures and large fontanelles, sloping forehead, hypertelorism, short and downward-slanting palpebral fissures, a high-arched and narrow palate, malformed ears, and long feet with overriding second and third toes. This is the sixth case of known duplication involving the 1q32q44 segment; the physical findings in the case reported herein are similar to those of other patients reported previously, providing further evidence of the existence of the "distal 1q trisomy" phenotype.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
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