Cases reported "Hypertelorism"

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1/15. Supernumerary chromosome inherited from a maternal balanced translocation leading to pure trisomy 9p.

    We describe a child with a supernumerary chromosome defined as der(9)t(9;22) (q12;p11), resulting in trisomy 9p and trisomy 22p. The mother carried the balanced translocation. In G- and C-banding the derivative chromosome 9 appeared to be dicentric and to contain 22q material. Using in situ hybridization we defined the exact breakpoints of the translocation and ruled out the possibility of a centric fission in the mother's chromosomes.
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ranking = 1
keywords = trisomy
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2/15. The trisomy 9p syndrome.

    Since the first description of trisomy 9p in 1970, there has been a rapidly increasing recognition and reporting of new cases. The physical and mental features of retarded growth and development, down-turned corners of the mouth, mildly globular nose, slightly wide-set and deep-set eyes with anti-Mongoloid slant, and unusual dermatoglyphics are distinctive enough to establish trisomy 9p as a clinical chromosomal entity--one which may prove to be the fourth most common autosomal syndrome (after trisomies 21, 13, and 18). This paper includes a review and tabulation of features seen in the 20 reported cases and photographs of the faces of ten of these children. A new case included in this survey demonstrates the practical application of four types of chromosome banding identification (C, G, Q, and R). The confirmation of the chromosomal aberration in this syndrome is dependent on the use of one or more of these special laboratory techniques. Most of the clinical characteristics distinctive of the trisomy 9p syndrome are seen also in other trisomies involving more or less of the number 9 chromosome. From these observations it is determined that the crucial determinants of the classical features of this syndrome lie within the distal half of the number 9 short arm.
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ranking = 1.1666666666667
keywords = trisomy
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3/15. trisomy 2q.

    Two unrelated patients with trisomy 2q32 leads to q37, resulting from maternal balanced translocations t(2; 13) (q32 q33) and t(2; 15) (q32 q26) are reported. Conparison of the clinical findings suggests that trisomy 2q is associated with a rather characteristic constellation of symptoms and malformations.
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ranking = 0.33333333333333
keywords = trisomy
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4/15. Segregation of a t(1;3) translocation in multiple affected family members with both types of adjacent-1 segregants.

    A subtle balanced translocation involving the terminal regions of 1q and 3p was identified in a large family by high-resolution karyotype analysis and confirmed by fluorescence in situ hybridization (FISH) analysis. In this family, segregation of a balanced t(1:3)(q42.3;p25) chromosome translocation led to two types of viable unbalanced complements. The proband inherited the derivative chromosome 3, resulting in partial trisomy of 1q and partial monosomy of 3p. A paternal uncle and cousin had the reciprocal rearrangement with a derivative of chromosome 1, resulting in partial monosomy for 1q and partial trisomy for 3p. While profound mental and physical retardation and congenital heart defects were characteristics for both rearrangements, facial dysmorphism was quite distinct for each imbalance. Individuals who had the derivative chromosome 3 had a long face, wide eyebrows, small palpebral fissures, hypertelorism, prominent glabella, a large tip of the nose, long philtrum with thin upper lip, and low set-ears. In contrast, family members with the derivative of chromosome 1 had a tall forehead with bifrontal narrowing, full and large cheeks, and large simple ears. Since the translocated segments are small and approximately equal in size in this family, it is not surprising that viability was seen in individuals with both types of adjacent-1 segregation. In this kindred, the ratio of normal to abnormal individuals born to balanced carriers is believed to be about 1:1.5. This suggests that the recurrence risk for carriers is 50%.
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ranking = 1.478147860214
keywords = partial trisomy, trisomy
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5/15. Apparently nonmosaic trisomy 22: clinical report and review.

    We report on apparently nonmosaic trisomy 22 in a liveborn girl with multiple congenital anomalies. The abnormalities were growth retardation; microcephaly; hypertelorism; epicanthic folds; anti-mongoloid slant; apparently low-set, malformed ears; highly arched, cleft palate; short webbed neck; and hypoplastic nails. The extra 22 was found to be of maternal origin by chromosome polymorphism.
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ranking = 0.83333333333333
keywords = trisomy
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6/15. trisomy 12p syndrome: de novo occurrence of mosaic trisomy 12p in a mentally retarded boy.

    The first case of trisomy of probable 12p mosaicism originated de novo is presented. Comparison of the clinical findings of this patient with those of previously described cases of 12p trisomy derived from translocated chromosomes indicates that the symptoms of 12p trisomy are: (1) normal birth weight and physical development, (2) severe psychomotor retardation and generalized hypotonia, (3) peculiarly round face with prominent cheeks, hypertelorism, epicanthus, broad, flat nasal bridge, short nose with anteverted nostrils, large philtrum, broad, prominent lower lip, and (4) poly(syn)dactyly of feet.
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ranking = 1.1666666666667
keywords = trisomy
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7/15. Delineation of a characteristic phenotype in distal trisomy 2q.

    A recombinant chromosome change with dup(2)(q34   qter) secondary to a paternal inv(2) (pter   q34) was found in a 19-year-old boy and his 12-year-old sister. Both were born at term with normal birth weight and head circumference. hypertelorism, irregular nystagmus, broad flat nasal bridge, and short beaked nose with anteverted nostrils were noted neonatally. Both developed microcephaly and brachycephaly. Cardiac, urogenital, retinal, and optic disc anomalies and onset of progressive kyphosis in adolescence were detected. Their facial appearance, with birdlike "Muppet Gonzo" features, was increasingly accentuated with age. Both had mild mental retardation with IQ's around 70. The clinical findings in these siblings were compared with those described in 23 cases with various 2q partial trisomies. The results of the present study and previous studies indicate a characteristic clinical presentation in children and adults. The reluctance to define the specific phenotype for distal 2q trisomy might be due to the fact that the clinical features tend to be considerably more pronounced towards adolescence than neonatally.
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ranking = 0.83333333333333
keywords = trisomy
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8/15. Premaxillary agenesis, ocular hypotelorism holoprosencephaly, and extracranial anomalies in an infant with a normal karyogram.

    This four-day-old male infant with holoprosencephaly and facial dysmorphia resembled other cases in that he had several severe extracranial malformations but unusual in that such infants often have an abnormal chromosome pattern, most frequently a trisomy 13. Our patient had a normal karyogram. He differed also in having a lobar rather than an alobar type of holoprosencephaly, which is the more usual form in association with this degree of facial anomaly. A synechia between the lips on one side and segmented double spinal cord (diastematomyelia) are rare lesions in this or any other condition. This infant illustrates the principle that holoprosencephaly and facial dysmorphia together are a symptom complex that may be part of another syndrome rather than a disease in its own right.
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ranking = 0.16666666666667
keywords = trisomy
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9/15. Abnormality of chromosome 16 and its phenotypic expression.

    An abnormality of chromosome 16 in which there is extra genetic material present on the short arm (46,XY, 16p ) has been identified. This chromosomal aberration was associated with multiple congenital anomalies, including mid-facial hypoplasia, arthrogryposis, and mental retardation. On the basis of the cytogenetic appearance and the phenotype of the patient, this may represent a partial 16 trisomy. Unlike most abnormalities of chromosome 16, this syndrome was compatible with life.
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ranking = 0.16666666666667
keywords = trisomy
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10/15. Partial trisomy for short arm of chromosome 5.

    We present two unrelated cases of partial trisomy for the short arm of chromosome 5, the first such cases reported in japan. The features are characterized by hypertelorism, low set ears, arachnodactyly, laryngostenosis, hypotonia and some cerebral malformation. The characteristic facial expression and arachnodactyly are the key features used to diagnose this disorder. A high-resolution chromosome banding technique showed that the karyotype of the first patient was 46,XX,inv dup(5) (p13.1-->p15.3) de novo and that of the second patient was 46,XX,dir dup(5) (p13.3-->p15.2) de novo. The similar symptoms in the two cases, despite the difference in karyotypes, were caused by duplication of 5p including segment 5p13. This would be a key site for this disorder.
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ranking = 1.4057405967737
keywords = partial trisomy, trisomy
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