Filter by keywords:



Filtering documents. Please wait...

11/18. Mosaic partial trisomy 17q2.

    Examination of an infant born after prenatal diagnosis of mosaic partial trisomy 17q2 showed the unique phenotypic features of this chromosomal abnormality, that is, frontal bossing, large mouth, brachyrhizomelia, and hexadactyly. amniocentesis was performed because of polyhydramnios and ultrasound diagnosis of fetal craniofacial dysmorphology and rhizomelic shortening of the limbs. Chromosomal mosaicism was restricted to fetal tissue and amniotic fluid cells. The placental chromosomal complement was normal, suggesting that the abnormality developed after differentiation of embryonic and trophoblastic cells. This emphasises the usefulness of cytogenetic evaluation of placental, fetal, and amniotic fluid cells in delineating the pathogenesis of congenital abnormalities.
- - - - - - - - - -
ranking = 1
keywords = trisomy, partial trisomy
(Clic here for more details about this article)

12/18. Partial duplication of the short arm of chromosome 2 (dup(2)(p13

   p21) associated with mental retardation and an Aarskog-like phenotype.     In this report we describe a 3-year-old boy with partial trisomy of the short arm of chromosome 2 due to a de novo tandem duplication 2(dup(2)(p13   p21)). In addition to severe growth retardation and moderate psychomotor delay he presented a dysmorphic syndrome compatible with the clinical diagnostic of Aarskog syndrome.
- - - - - - - - - -
ranking = 0.2
keywords = trisomy, partial trisomy
(Clic here for more details about this article)

13/18. Limb anomalies in chromosomal aberrations.

    This survey shows that there are at least 6 autosomal and 2 gonosomal aberrations which may produce specific types of limb anomaly in 30%-80% of cases. The "expressivity" of these anomalies covers a wide range within the morphogenetic pattern. No entirely specific malformation type is seen. The most unusual malformation, aplasia of the thumbs with proximal synostosis of the 4th aand 5th metacarpals, is seen in 13q- (13r) but the precise cytogenetic basis is not clear. Aplasia of the thumb associated with synostosis of the 4th and 5th metacarpals was occasionally described before (unilateral [105], bilateral [106] while synostosis only (V or Y shaped) may be due to a dominant [107] or an X-linked recessive gene [108]. Reduction malformations limited to radial heminelia have been noted in 4q- (4r) and in trisomy 18. Although the number of cases is still small the pattern is similar to that of thalidomide embryopathy, radial hemimelia (AD, 17910), cardiodigital syndromes (AD, 14290), and even Fanconi panmyelopathy (AR, 22790). It ranges from hypoplasia of the thenar muscles and thumb to pseudophocomelia which should be clearly distinguished from phocomelia because of the absence of the thumb and frequently of the 2nd and 3rd fingers. Nothing has to be added to the teratologic series published by Muller [58] and, more recently, Willert and Henkel [109], but the distribution of the various manifestations may diverge. Asymmetry in 4q- (4r) is noteworthy. Postaxial polydactyly which is noted in trisomy 13 and trisomy of the terminal portions of the long arm of No. 13 is as variable in distribution and morphology as is observed in families in which the gene (AD, 17420) is transmitted. The question cannot yet be answered whether infrequent anomalies of the limbs which do not fit into the morphologic pattern of these types, eg postaxial polydactyly in 18 or absence of the radius in 13 are random. syndactyly of the 3rd and 4th but also of other digits is a frequent but variable anomaly in triploidy. It is very similar to hereditary zygodactyly (AD, 18590). Peripheral hypoplasia of several digits accompanied by onychodysplasia seems to be a frequent anomaly in 9p syndrome. It is similar to that seen in a syndrome with mental deficiency, peculiar facies, and stunted growth [110] in which no chromosomal aberration has been found up to the present. dysostoses have been frequently noted in gonosomal aberations. Brachymetopodia in XO females maybe confused with pseudo-pseudohypoparathyroidism (XR, 30080) or brachydactyly type E (AD, 11330) when only the lateral metacarpals and/or metatarsals are shortened. However, further studies are needed in order to delineate these syndromes on the basis of different frequencies and radiologic patterns. The radioulnar synostosis noted in cases with supernumerary X chromosomes cannot be distinguished from the inherited anomaly (AD, 17930), but associated anomalies of the hand are uncommon.
- - - - - - - - - -
ranking = 0.3209228135557
keywords = trisomy
(Clic here for more details about this article)

14/18. 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 = 0.53487135592616
keywords = trisomy
(Clic here for more details about this article)

15/18. Anatomical studies of a boy trisomic for the distal portion of 13q.

    A boy trisomic for the distal portion of 13q was dissected in detail and compared to 8 cases of complete trisomy 13 previously studied in our laboratory. The comparison shows that the partial trisomy 13q case did not correspond well to a muscle phenotype based on 6 variations common trisomy 13, but rather to a larger muscle phenotype that included variations less frequently observed in complete trisomy 13. Additional cases of partial trisomy 13 must be studied before these findings can be related to specific portions of chromosome 13.
- - - - - - - - - -
ranking = 0.7209228135557
keywords = trisomy, partial trisomy
(Clic here for more details about this article)

16/18. Prenatal detection of preaxial upper limb reduction in trisomy 18.

    BACKGROUND: Abnormalities of the upper and lower extremities, such as club feet, rocker-bottom feet, and abnormal hand posturing, are frequently detected prenatally in trisomy 18 fetuses. Aplasia of the radius, usually associated with the absence or hypoplasia of the first metacarpal and thumb, is the most prevalent reduction malformation in trisomy 18 infants. Because this anomaly is easily missed during prenatal ultrasonography, the role of prenatal detection of this particular preaxial upper limb reduction has not been emphasized. CASES: Three cases of trisomy 18 in which preaxial upper limb reduction (radial aplasia) was identified prenatally by ultrasound are reported. Although in all cases there were additional ultrasonographic findings suggestive of trisomy 18, the prenatal detection of preaxial upper limb reduction facilitated the diagnosis. CONCLUSION: Ultrasonographic examination of fetal forearms for the detection of preaxial upper limb reduction should be a routine part of the prenatal evaluation of fetuses in whom trisomy 18 is suspected.
- - - - - - - - - -
ranking = 0.96276844066709
keywords = trisomy
(Clic here for more details about this article)

17/18. trisomy 13 (Patau syndrome) with an 11-year survival.

    trisomy 13 is very rare in live-born children. Only a small number of these children survive the first year and very few cases are reported to live longer. survival time depends partly on the cytogenetic findings--full trisomy 13 or trisomy 13 mosaicism--and partly on the existence of serious somatic malformations. We report on a 11-year-old girl with full trisomy 13. In this case, missing cerebral and cardiovascular malformations probably allowed the long survival.
- - - - - - - - - -
ranking = 0.3209228135557
keywords = trisomy
(Clic here for more details about this article)

18/18. trisomy 22 and facioauriculovertebral (Goldenhar) sequence.

    We report on an infant girl born with complete trisomy 22 and left hemifacial microsomia, ear anomaly, and limbal and epibulbar complex choristoma. trisomy 22 was confirmed by prometaphase chromosome analysis and in situ hybridization. This patient extends the list of chromosome abnormalities associated with apparent Golenhar sequence and emphasizes the importance of chromosome analysis in the investigation of patients with this condition. A detailed ophthalmopathological investigation is reported.
- - - - - - - - - -
ranking = 0.10697427118523
keywords = trisomy
(Clic here for more details about this article)
<- Previous |


Leave a message about 'Limb Deformities, Congenital'


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