Cases reported "Coloboma"

Filter by keywords:



Filtering documents. Please wait...

11/18. trisomy 22 with 'cat eye' anomaly.

    The case of a 10-month-old girl with an extra G-like chromosome is presented. quinacrine, trypsin-Giemsa, and reverse banding identified the extra chromosome as no. 22. The phenotype of the patient is unique in that unilateral iris coloboma was observed, unlike the 18 cases of full trisomy 22 already published. This represents the first reported case of full trisomy 22 with this coloboma, or 'cat eye' anomaly, which is usually associated with partial trisomy 22. It is suggested that the use of the term 'cat eye syndrome' be revised. The terms 'partial trisomy 22 syndrome' and 'trisomy 22 syndrome' should be used instead.
- - - - - - - - - -
ranking = 1
keywords = partial trisomy, trisomy
(Clic here for more details about this article)

12/18. Ocular pathology in trisomy 18 (Edwards' syndrome).

    A case of a full-term female with confirmed trisomy 18 who died a few hours after her delivery is presented. In addition to many severe systemic malformations, some ocular findings are described. They include cataract and hypoplasia of optic nerves in both eyes, and juxtapapillary coloboma, retinal dysplasia and Bergmeister's papilla in the left eye. The last finding is a new one in trisomy 18.
- - - - - - - - - -
ranking = 0.77564671180597
keywords = trisomy
(Clic here for more details about this article)

13/18. Cat-eye syndrome with unusual marker chromosome probably not chromosome 22.

    An unusual supernumerary chromosome with a single satellite on the long arm was found in a child with manifestations of the cat-eye syndrome including apparently low-set and malformed ears, preauricular tags, micrognathia, and imperforate anus. Although G-banding suggested that this extra material was chromosome 22, this was not confirmed by several other banding techniques. After examination of the parents' chromosomes, the nature and origin of this extra chromosome remains obscure. We conclude that patients previously diagnosed as having "partial trisomy 22" with incomplete cat-eye syndrome may have a different chromosome constitution when studied by various banding techniques.
- - - - - - - - - -
ranking = 0.30608832204851
keywords = partial trisomy, trisomy
(Clic here for more details about this article)

14/18. The aetiology of the cat eye syndrome reconsidered.

    The cat eye syndrome (CES), usually ascribed to the presence of a deleted supernumerary 22 chromosome, is characterised by a typical clinical picture including anal atresia, ocular coloboma, preauricular tags or sinuses, congenital heart defects, urinary tracts anomalies, and mental and physical retardation. An analysis of published reports revealed that of the 57 reported cases, only 21 showed the complete form, and 11 had a normal karyotype. Several observations question the existence of a trisomy 22:(1) the absence of any report in living subjects of trisomy 22 arising from an inherited Robertsonian translocation; (2) the recurrent abortions in carriers of Robertsonian translocations involving chromosome 22; and (3) the existence of a syndrome, showing the same clinical features as trisomy 22, which is irrefutably dependent on a trisomy of the distal region of the 11 long arm. On the basis of a comparison of the clinical features in full trisomy 13, partial 13 trisomies, 13 rings, 13 deletions, and CES the small marker present in this syndrome is considered to be a chromosome 13 with an interstitial deletion. An attempt to map this chromosome has been made.
- - - - - - - - - -
ranking = 0.64637225983831
keywords = trisomy
(Clic here for more details about this article)

15/18. Partial trisomy 1 (q42 leads to ter).

    Clinical findings on three closely related, severely malformed infants and a 20-week-old fetus with an identical partial trisomy of chromosome 1 (1q42 leads to ter) have made possible the delineation of a new syndrome. The typical manifestations of this syndrome are: severe intrauterine and postnatal developmental retardation, trigonocephaly with wide sutures and fontanels, characteristic facial features, colobomata of the iris, small hands and feet, and early death.
- - - - - - - - - -
ranking = 0.82318612991915
keywords = partial trisomy, trisomy
(Clic here for more details about this article)

16/18. trisomy 18 in a patient with CHARGE association.

    CHARGE association is the non-random association of congenital anomalies, including colobomata of the eyes, heart defects, choanal atresia, retardation of growth and development, genital hypoplasia and ear abnormalities. It is usually a sporadic event of unknown cause. We report a neonate with trisomy 18 and apparent CHARGE association. The associated abnormalities made the diagnosis difficult until the chromosomal results became available. Abnormalities such as clenched hands and short palpebral fissures pointed to the possibility of a chromosomal anomaly. The chromosome study revealed trisomy 18. It is important to perform chromosomal studies quickly when diagnosing a patient with apparent CHARGE association who also has other minor anomalies atypical of CHARGE.
- - - - - - - - - -
ranking = 0.25854890393532
keywords = trisomy
(Clic here for more details about this article)

17/18. 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 = 0.12927445196766
keywords = trisomy
(Clic here for more details about this article)

18/18. Characterization of a derivative chromosome 17 by fish-technique.

    We report a case with derivative chromosome 17 which could not be characterized by routine G-banding, since the additional material on 17q overlapped with chromosome bands 2q35 -->qter, 3p25-->pter, 4p15-->pter, 5q33-->qter, 7p15-->pter, 12p11.2-->pter, 14q24-->qter and 16q22-->qter. Therefore, whole chromosome paint and region specific probes were used to identify the abnormality by FISH-technique which revealed a 46,XY, der (17) t (4;17) (p15.2;q25) karyotype. The proband was partially trisomic for 4p15.2-->pter and monosomic for the distal 17q25-->qter regions. The major clinical features included: anti-mongoloid slanted palpebrae, coloboma of right iris, depressed nasal bridge, high arched palate, protruding tongue, micrognathia and small penis. The MRI of the brain revealed midly hypoplastic cerebellar vermis, and a normal septum pellucidum. The infant responded to therapy for hypoglycemia and was discharged under stable condition. Prior to cytogenetic evaluation the infant was not recognized as either "trisomy 4p syndrome" or "monosomy 17q syndrome".
- - - - - - - - - -
ranking = 0.12927445196766
keywords = trisomy
(Clic here for more details about this article)
<- Previous |


Leave a message about 'Coloboma'


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