1/12. prenatal diagnosis of nonmosaic trisomy 9 in a fetus with severe renal disease.We report a case of nonmosaic trisomy 9 presenting at 21 weeks of gestation with polycystic, echogenic horseshoe kidney, collapsed bladder, absent amniotic fluid, and intrauterine growth restriction. color Doppler imaging demonstrated no blood flow signals from renal vessels. fetal blood sampling confirmed a 47,XX, 9 karyotype, with no evidence of mosaicism, and increased serum beta2-microglobulin levels of 10.7 mg/l, consistent with severe renal failure. A repeat scan at 23 weeks also revealed a dysmorphic face, bilateral microphthalmia, and a cerebellar vermian defect. Follow-up examinations showed progressive growth restriction leading to fetal death at 33 weeks of gestation. This report demonstrates that fetuses with nonmosaic trisomy 9 may present with severe renal abnormalities and confirms that cases seen in the second and third trimesters usually have a dismal outcome.- - - - - - - - - - ranking = 1keywords = trisomy (Clic here for more details about this article) |
2/12. Autosomal dominant congenital cataract and microphthalmia associated with a familial t(2;16) translocation.We describe a family in which autosomal dominant congenital cataract and microphthalmia were segregating together with a reciprocal translocation t(2;16) (p22.3;p13.3) through three generations. This family included four individuals with balanced translocations, three with partial trisomy 2p derived from this translocation, and two with a normal karyotype. All of the subjects with balanced and unbalanced translocations had congenital cataract and microphthalmia, whereas the two individuals with normal karyotypes did not show any ocular anomalies. These observations suggest that the altered function of a gene that lies on the 16p13.3 band and that has an important role in the development of the eye is responsible for this disorder.- - - - - - - - - - ranking = 1.1997773145158keywords = partial trisomy, trisomy (Clic here for more details about this article) |
3/12. Multiple congenital malformations including severe eye anomalies and abnormal cerebellar development with Dandy-Walker malformation in a girl with partial trisomy 3q.PURPOSE: Ocular anomalies have been associated with numerous chromosomal abnormalities. This report describes partial trisomy 3q in a two-month-old girl with dysmorphic features of the Dup3q phenotype and severe eye and cerebellar malformations. methods: Clinical examination and chromosomal analysis were conducted. RESULTS: The karyotype of the propositus was 46,XX, ins(3)(pter --> p25::q27 --> q21::p25 --> qter). She had an abnormal head shape, low-set malformed ears, coarse facies, short webbed neck, abnormal foot position, polycystic kidney, and spina bifida. There was also bilateral microphthalmia that was more severe on the right side, microcornea, and corneal opacity. She had posterior fossa abnormalities, including cerebellar vermis hypoplasia suggestive of a Dandy-Walker (DW) malformation. CONCLUSIONS: This girl with an intrachromosomal duplication of distal 3q and typical phenotype belongs to the severe end of the spectrum for such cases. The ocular manifestations of the 3q duplication syndrome provide additional evidence of the involvement of developmental eye genes in this chromosomal segment.- - - - - - - - - - ranking = 5.9988865725792keywords = partial trisomy, trisomy (Clic here for more details about this article) |
4/12. Complete trisomy 1q with mosaic Y;1 translocation: a recurrent aneuploidy presenting diagnostic dilemmas.We present a case of a liveborn male with complete trisomy 1q in mosaic form due to a de novo unbalanced translocation. There are seven previously documented cases of complete trisomy for 1q, which demonstrate that this is a lethal condition. All cases have similar phenotype including weights greater than 50th centile for gestational age, hydrocephalus, microphthalmia, abnormal ears, small mouth or jaw, and abnormal fingers. single umbilical artery, imperforate anus, and dysplastic kidneys are also seen in more than one patient. Five of the eight translocation cases have identical chromosomal breakpoints involving 1q and Yq. This suggests the possibility of sequence similarities on these two chromosomes as has been documented with several other recurrent chromosomal rearrangements. Further, this case demonstrates the need for postnatal genetics evaluation following prenatal diagnosis. In postnatal testing, the aneuploidy could not be demonstrated in metaphase cells from cultured lymphocytes. More detailed testing prompted by abnormal amniocentesis and neonatal dysmorphology was necessary to confirm the cytogenetic diagnosis. Without the prenatal diagnosis, it is likely that the true cytogenetic aberration would have gone undetected.- - - - - - - - - - ranking = 1keywords = trisomy (Clic here for more details about this article) |
5/12. Optic disc coloboma and localized chorioretinal defects in constitutional partial trisomy 8 mosaicism.Constitutional partial trisomy 8 mosaicism is a rare chromosomal multisystem disorder with systemic and ophthalmologic manifestations. We report the case of a 15-year-old female mosaic for trisomy 8 who has unilateral colobomatous microphthalmia and multiple chorioretinal defects. These congenital anomalies have not been previously reported in association with constitutional partial trisomy 8 mosaicism.- - - - - - - - - - ranking = 7.3653305537618keywords = partial trisomy, trisomy (Clic here for more details about this article) |
6/12. microphthalmos with colobomatous orbital cyst in trisomy 13.The authors describe a case of trisomy 13 with microphthalmos and colobomatous cyst of the optic nerve and of the chorioretina with orbital extension, in a six-month-old female patient. The colobomatous cyst has been studied by means of computerized axial tomography and ultrasonography in order to follow its evolution. The orbital cyst has not increased in size.- - - - - - - - - - ranking = 0.83333333333333keywords = trisomy (Clic here for more details about this article) |
7/12. Microphthalmia and chorioretinal lesions in a girl with an Xp22.2-pter deletion and partial 3p trisomy: clinical observations relevant to aicardi syndrome gene localization.We present a 4-year-old girl with a maternally derived, unbalanced X;3 translocation resulting in partial Xp monosomy and partial 3p trisomy. She had chorioretinal defects, developmental delay, infantile seizures, and microphthalmia. These findings initially suggested a diagnosis of aicardi syndrome. However, she had a normal-appearing corpus callosum on CT and magnetic resonance imaging scans of the brain and her retinal findings were not typical for aicardi syndrome. This represents the 6th reported example of microphthalmia associated with an Xp22 chromosome abnormality. Four of these individuals also had features suggestive of focal dermal hypoplasia (FDH), which was not evident in our patient. The available evidence supports the hypothesis that gene disruption at Xp22 may lead to findings similar to those seen in aicardi syndrome and FDH, both of which are believed to be X-linked dominant male lethal conditions.- - - - - - - - - - ranking = 0.83333333333333keywords = trisomy (Clic here for more details about this article) |
8/12. Anophthalmia in a retarded girl with partial trisomy 4p and 22 following a maternal translocation, rcp(4;22)(p15.2;q11.2).An 18-year-old girl displayed left anophthalmia and right severe microphthalmia, mild dysmorphic features of facies and distal limbs, a right preauricular pit, and moderate mental retardation. She was trisomic for the distal part of the short arm of chromosome 4 and the proximal segment of chromosome 22, due to unbalanced 3:1 segregation of a maternal 4;22-translocation. Anophthalmia is a rare finding in chromosome aberrations in general, and particularly in patients not featuring other severe malformations and severe to profound mental retardation.- - - - - - - - - - ranking = 4.7991092580634keywords = partial trisomy, trisomy (Clic here for more details about this article) |
9/12. Partial trisomy 10q occurring in a family with a reciprocal translocation t(10;18)(q25;q23).Partial trisomy 10q was observed in an eighteen year old girl with severe mental and physical retardation, microcephaly, a high forehead, microphthalmia, antimongoloid slants, low set ears and severely malformed extremities. A balanced translocation t(10q-;18q ), present in several family members, was identified by fluorescence and thermic denaturation techniques; the break points were 10q25 and 18q23. A comparison made with seven similar cases suggests a common, phenotypical appearance which may be of diagnostic value.- - - - - - - - - - ranking = 0.83333333333333keywords = trisomy (Clic here for more details about this article) |
10/12. Ultrasonic evaluation of microphthalmos and coloboma. A discussion of 3 cases, with emphasis on microphthalmos with orbital cyst.Three cases of ophthalmic malformations are discussed from the standpoint of the usefulness of ultrasound evaluation, however with respectful reference to the revised classification of microphthalmos and coloboma presented by Warburg 1993. The main findings were, (case 1): microphthalmos with iris coloboma, unilateral posterior orbital cyst, and mental retardation, karyotype normal, consanguineous parents, (case 2) trisomy 13 with extreme microphthalmos and cheilo-gnatho-palatoschisis, and (case 3) ringchromosome 14, posterior fundus colobomas, and malformation of the heart, with features corresponding to the CHARGE association.- - - - - - - - - - ranking = 0.16666666666667keywords = trisomy (Clic here for more details about this article) |
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