Filter by keywords:



Filtering documents. Please wait...

11/55. Unusual combination of limb malformations in the same patient: brachydactyly with syndactyly and postaxial polydactyly of the hands and postaxial oligodactyly of the feet.

    We report on a case with polydactyly, syndactyly and brachydactyly of the hands and oligodactyly of the feet, but no other anomalies and normal chromosome analysis. We compared the findings in our case with those of brachydactyly B, Fuhrmann syndrome and Haas-type syndactyly. However, it was not possible to suggest a syndrome diagnosis in the present case.
- - - - - - - - - -
ranking = 1
keywords = chromosome
(Clic here for more details about this article)

12/55. prenatal diagnosis of fetal trisomy 6 mosaicism and phenotype of the affected newborn.

    The first case of a fetal trisomy 6 mosaicism proven at 25 weeks of gestation by analysis of fetal urine cells is described. Chromosomal analysis was indicated by an ultrasonographically diagnosed heart defect at 21 weeks of gestation. The chromosomal aberration was detected in amniotic fluid cells while fetal blood cells showed a normal chromosome set. At term a boy with normal growth parameter was born. In addition to the expected heart defect, malformations of hands and feet were present.
- - - - - - - - - -
ranking = 1
keywords = chromosome
(Clic here for more details about this article)

13/55. The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype.

    In this communication we describe the clinical and molecular genetic findings in a family with a variable ectrodactyly linked to SHFM3. This is only the second detailed report of the clinical features of the SHFM3 linked syndrome in a large pedigree. Within this family the expressivity of the condition ranges from the classical ectrodactyly deformity to partial absence of the thumb and agenesis of the distal tip of the index finger. There is discordant limb severity, with the feet more severely affected than the hands. Two individuals have a nail dysplasia indicating the presence of a minor ectodermal component. A cleft palate was present in one individual. Radiological features of family members include short metacarpals with rounded proximal heads, agenesis of the radial ray, epiphysial coning, and an unusual supernumerary ossicle opposed to the distal phalanx of the left thumb. Genetic mapping studies in this family exclude p63 involvement and demonstrate that ectrodactyly in this pedigree is linked to the SHFM3 region on chromosome 10q24. A meiotic recombination event enabled exclusion of a maximum of 1.9 Mb of dna from the previously known critical region thereby narrowing the critical interval to between D10S1265 and D10S222, with the minimal critical region being between D10S1240 and D10S1267. Further investigations are in progress to identify the gene within the SHFM3 critical region responsible for ectrodactyly.
- - - - - - - - - -
ranking = 1
keywords = chromosome
(Clic here for more details about this article)

14/55. prenatal diagnosis of a partial monosomy 7q11-->q31 in a fetus with split foot.

    OBJECTIVE: A 27-year-old woman was referred to our laboratory for genetic counseling at 26 weeks of gestation due to abnormal ultrasound findings including intrauterine growth retardation, Dandy-Walker malformation and lower extremity anomalies. methods: Chromosome analysis was performed on fetal blood sample obtained by cardiocentesis. RESULT: We observed an abnormal karyotype with a structural abnormality of the long arm of chromosome 7. Both parents' chromosomes were normal; thus, the fetal karyotype designation was 46,XX, del(7)(pter-->q11::q31-->qter) de novo. skin biopsy sample was taken to confirm the karyotype after therapeutic abortion was performed. The result was identical. Postmortem examination and autopsy showed facial dysmorphism, malformations of the lower extremities and central nervous system anomalies. CONCLUSION: 7q interstitial deletions cause a wide spectrum of congenital abnormalities and syndromes linked to the deleted segments. Our case had a rather wide chromosome region deleted and it is important, because prenatal diagnosis was performed. Thus, the family had the chance to evaluate the situation and decided to terminate the pregnancy after genetic counseling.
- - - - - - - - - -
ranking = 3
keywords = chromosome
(Clic here for more details about this article)

15/55. The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene.

    We report a four generation family with features of the facio-audio-symphalangism syndrome. This condition is characterized by proximal symphalangism, conductive hearing loss due to stapes fixation and a distinctive facies. A novel nonsense mutation in the NOG gene on chromosome 17q22 was identified in the patients. The variable expression and progressive nature of the syndrome is well illustrated by this family. The role of Noggin as the causative factor of symphalangism is discussed.
- - - - - - - - - -
ranking = 1
keywords = chromosome
(Clic here for more details about this article)

16/55. acrocallosal syndrome in a child with de novo inverted tandem duplication of 12p11.2-p13.3.

    Report on the child of normal unrelated parents presenting the typical features of acrocallosal syndrome (craniofacial dysmorphy, mental deficiency, convulsive disorder, agenesis of corpus callosum, preaxial polydactyly "hallux duplex" of both feet, and in addition diabetes insipidus) in which a mirror duplication of nearly the entire short arm of chromosome 12 was discovered. Since the symptomatology of trisomy and tetrasomy 12p shows some overlap with acrocallosal syndrome a common origin of the monogenic disorder and the chromosomal phenotypes is discussed.
- - - - - - - - - -
ranking = 1
keywords = chromosome
(Clic here for more details about this article)

17/55. Autosomal dominant inheritance of abnormalities of the hands and feet with short palpebral fissures, variable microcephaly with learning disability, and oesophageal/duodenal atresia.

    We report two families with an autosomal dominant syndrome of abnormalities of the hands and feet, short palpebral fissures, and variable microcephaly with learning disability. Between a third and a quarter of cases are born with oesophageal atresia, duodenal atresia, or both. Individual patients have hypoplastic thumbs or congenital heart disease. The phenotype of the syndrome reported here is similar to that observed in 13q22-qter deletion patients. However, chromosome analysis has not detected any structural abnormality in our patients.
- - - - - - - - - -
ranking = 1
keywords = chromosome
(Clic here for more details about this article)

18/55. Unique X-linked mental retardation syndrome with fingertip arches and contractures linked to Xq21.31.

    We studied 10 members of a 4 generation missouri kindred with a dominant mental retardation syndrome with increasing severity in males. The 21 year-old propositus presented with severe mental retardation, microcephaly, asymmetric face, exotropia, hypogonadism, joint hypermobility, rocker bottom feet, and 10 low digital arches. Two brothers and a male cousin had similar features. The mother, sister, niece, maternal aunt, female cousin, and grandmother were examined and each had 8 to 10 low digital arches. Five of the women had exotropia and one had pes cavus feet. Chromosome analysis for fragile X in multiple relatives was normal. To determine the likelihood that this was an X-linked syndrome. dna from relatives was hybridized to probes which detect 13 different loci spanning the X-chromosome. A peak lod score of 2.78 at theta equal to 0.0 was calculated for the syndrome locus and DXYS1 (pDP34). The more distal Xq loci showed increasing recombination with the syndrome locus. These results are consistent with location for this syndrome near Xq21.31, the chromosomal locus for DXYSI.
- - - - - - - - - -
ranking = 1
keywords = chromosome
(Clic here for more details about this article)

19/55. Deletion of 16q with prolonged survival and unusual radiographic manifestations.

    Deletion of 16q is characterized by mental retardation, microcephaly, a characteristic combination of minor facial anomalies, and broad halluces. Various break points have been described. This patient's phenotype is typical of this syndrome, but in addition, unusual radiographic findings were present. This chromosome abnormality is compatible with survival into adulthood. Expression of this phenotype does not appear to be correlated with specific break points.
- - - - - - - - - -
ranking = 1
keywords = chromosome
(Clic here for more details about this article)

20/55. Severe mental retardation in a patient with tricho-rhino-phalangeal syndrome type I and 8q deletion.

    We report a 19-year-old boy with an interstitial deletion of the long arm of chromosome 8 (46, XY, del(8)(pter   q23.3: :q24.13   qter)). He shows the typical clinical symptoms of tricho-rhino-phalangeal syndrome (TRPI) and severe mental retardation, however without multiple exostoses. This is the second report of a combination of abnormalities and interstitial deletion of 8q.
- - - - - - - - - -
ranking = 1
keywords = chromosome
(Clic here for more details about this article)
<- Previous || Next ->


Leave a message about 'Foot Deformities, Congenital'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.