Cases reported "Cleft Lip"

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1/28. trisomy iop. A report of two cases due to a familial translocation rcp (10;21) (pII;pII).

    trisomy for the short arm of chromosome number 10 was diagnosed (by a G-banding method) in two sisters with multiple congenital defects. Their mother and two other sisters showed a balanced translocation 46,XX rcp(10;21)(p11;p11), so the affected girls were the result of a maternal adjacent-1 meiotic segregation with a karyotype 46,XX, der(21), rcp(10;21)(p11;p11)mat. The concordant features in the abnormal patients constitute the following syndrome: severe psychomotor retardation, congenital microsomatia, mild hydrocephalus with cranium-face disproportion, low set ears with hypoplastic helix, ocular colobomata, pulmonary stenosis,flexion deformity of wrists and elbows, bilateral fifth finger clinodactyly and simian creases, hypoplastic dermal ridges, bilateral talipes, persistent icterus and delayed bone age. The phenotypical and cytogenetic findings permit the individualization of the 10p trisomy.
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ranking = 1
keywords = trisomy
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2/28. trisomy 20q caused by der(4) t(4;20) (q35;q13.1): report of a new patient and review of the literature.

    An infant with multiple congenital anomalies and severe developmental delay was found to have a derivative chromosome 4 by routine karyotypic analysis. Using telomeric FISH analysis, the source of the additional chromatin was determined to be from 20q. The infant, thus, is trisomic for 20q13.1 to 20qter and monosomic for the sub-telomeric region of 4q. Other cases of trisomy 20q13.1to 20qter associated with telomeric deletions are reviewed and compared to the current patient.
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ranking = 1
keywords = trisomy
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3/28. Terminal tandem duplication of 16p: a case with "pure" partial trisomy (16)(pter-->p13).

    A new-born infant was found to have multiple congenital anomalies Including bilateral cleft of lip and palate, club-hands and feet, and heart defects. High resolution chromosome analysis showed a de novo tandem duplication of the terminal part of the short arm of chromosome 16, resulting in a dup(16)(pter-->p13). Fluorescent in situ hybridization with a chromosome 16-specific paint confirmed that the extra material belonged to chromosome 16.
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ranking = 10.725180272541
keywords = partial trisomy, trisomy
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4/28. First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter --> q22.1::q22.1 --> pter) is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q- syndrome.

    Isopseudodicentric chromosome 18 is very rare and results in a combination of partial trisomy and partial monosomy of chromosome 18. We report here a hypotrophic newborn with a lateral cleft lip and palate and multiple craniofacial dysmorphisms, a combined heart defect, unilateral hypoplasia of the kidney, bilateral aplasia of thumbs, and generalized contractures. cytogenetic analysis revealed an isopseudodicentric chromosome 18 with breakpoint in 18q (46,XX,psu idic(18)(pter --> q22.1::q22.1 --> pter)). The isopseudodicentric chromosome 18 was observed in 100% of blood lymphocytes and umbilical cord fibroblasts, thus indicating a non-mosaic finding of the isopseudodicentric chromosome in the child. An elongated derivative chromosome 18 had also been found prenatally in amniotic cells. In contrast, a terminal deletion (18q-) was detected in placental cell cultures. The breakpoint was mapped to a 0.9 Mb region on 18q22.1 (located 64.8-65.7 Mb from the telomere of the p-arm) by a novel quantitative PCR approach with SYBR green detection. The results indicate an identical breakpoint of the isopseudodicentric chromosome 18 in the child and the 18q- chromosome in the placenta. To our knowledge this is the first report that a fetus carrying an isopseudodicentric chromosome 18 with breakpoint in 18q (46,XX,psu idic(18)(pter --> q22.1::q22.1 --> pter)) in non-mosaic form can be viable, but is associated with severe congenital malformations of the child.
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ranking = 6.6812950681353
keywords = partial trisomy, trisomy
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5/28. Follow-up of a girl with cleft lip and palate and multiple malformations: trisomy 20 mosaicism.

    We describe a 16(1/2) -year-old girl with multiple anomalies including cleft lip and palate and a normal karyotype in blood lymphocytes. Because of hyperpigmention along the lines of Blaschko, her karyotype in skin fibroblasts was examined, which showed mosaicism for trisomy 20. This is the first report to our knowledge of this karyotype where hyperpigmentation and facial clefting occurred together.
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ranking = 5
keywords = trisomy
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6/28. hydrocephalus with cleft lip and palate: an overlap between midline malformation syndromes.

    We present a male infant with hydrocephalus, cleft lip/palate, micrognathia, club foot, laryngeal stenosis and ostium secundum type atrial septal defect. The karyotype was 46 XY. The combination of malformations observed overlaps with the characteristic findings of hydrolethalus syndrome, Meckel syndrome, smith-lemli-opitz syndrome and pseudotrisomy 13. We discussed the differential diagnosis of the case.
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ranking = 1
keywords = trisomy
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7/28. Calvarial sutural abnormalities: metopic synostosis and coronal deformation--an anatomic, three-dimensional radiographic, and pathologic study.

    The purposes of this study were (1) to evaluate the histologic differences between synostotic versus deformational suture abnormalities and (2) to correlate these histologic findings with anatomic and three-dimensional computed tomographic (CT) scans. We examined three infants with premature metopic synostosis; one infant also had microcephaly trisomy 13 and curious overriding of the coronal sutures. The three-dimensional CT scans demonstrated obliteration of the metopic suture inferiorly. Histologic sections of this suture showed complete bony stenosis. The same pattern was found in all three infants, including the two infants with trigonocephaly who did not have trisomy 13 or microcephaly. In the trisomy 13 infant, the overlapped inferior coronal suture was obliterated on CT examination. However, histologic sections in this region showed a merging of bone; there was no synostosis. In summary, three-dimensional CT re-formation correlated with metopic suture histology. "Stenotic" fusion existed in all infants with trigonocephaly, those with normal and abnormal karyotypes, with and without microcephaly. However, three-dimensional CT re-formation of the trisomic infant showed opacification of the coronal suture in the areas of greatest overlap, whereas histology revealed a curious bone remodeling pattern, possibly a precursor to "deformational" craniosynostosis.
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ranking = 3
keywords = trisomy
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8/28. "Pure" partial trisomy 3p due to the malsegregation of a balanced maternal translocation t (X;3) (p22.3;p21).

    The authors present the clinical and cytogenetic studies of a white malformed baby with dup (3p) secondary to the malsegregation of a maternal balanced (X;3) (p22.3;p21) translocation. Besides the typical clinical features he also presented polydactyly of both hands. X-replication findings of the mother's lymphocytes did not strictly follow the usual inactivation pattern of balanced X;A translocations.
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ranking = 10.725180272541
keywords = partial trisomy, trisomy
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9/28. neural tube defects and omphalocele in trisomy 18.

    A trisomy 18 fetus with severe congenital anomalies including craniorachischisis, large omphalocele, and bilateral cleft lip and palate is reported. The occurrence of neural tube defects and/or omphalocele in reported cases of trisomy 18 is discussed and the frequency of these anomalies in 85 trisomy 18 patients evaluated at indiana University School of medicine from 1963 to 1986 is reviewed. In this series of patients the frequency of neural tube defects was 7.0% and the frequency of omphaloceles was 5.9%. The percentage of these findings in our cases supports the premise that neural tube defects and omphaloceles are part of the trisomy 18 phenotype. Since fetuses with trisomy 18 are subject to early fetal loss or premature birth, the more subtle physical features of this condition may not be apparent. Thus, karyotyping of fetuses and premature infants with either neural tube defect or omphalocele should be considered.
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ranking = 9
keywords = trisomy
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10/28. The brain in partial trisomy 18: a case report.

    This is a clinical and neuropathological report of a 27-year-old male with partial trisomy of the long arm of chromosome 18. Severe psychomotor retardation, blindness, and epilepsy were the major clinical features. microcephaly, an unusual diverticulum of the left occipital lobe, and severe atrophy of the visual system were the major findings on neuropathological examination.
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ranking = 13.406475340677
keywords = partial trisomy, trisomy
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