View a developmental anomaly category

Developmental anomaly categoryinformation for Chromosomal abnormalities (Chromosomal syndromes)

Description: The terminology of chromosomal abnormalities : 1- Autosomal trisomies. 2-Triploidy 3- 45,X (Monosomy X) 4- Tetraploidy 5-Double trisomy 6-Translocations 7- Mosaicism 8-Isochromosomy 9-Polyploidy 10-Tetrasomy 11-Fragil X


Developmental anomalies associated with this developmental anomaly category :

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        (
            [id] => 25
            [name] => Chromosomal abnormalities (Chromosomal syndromes)
            [description] =>  The terminology of chromosomal abnormalities :
1- Autosomal trisomies.
2-Triploidy
3- 45,X (Monosomy X)
4- Tetraploidy
5-Double trisomy
6-Translocations
7- Mosaicism
8-Isochromosomy
9-Polyploidy
10-Tetrasomy
11-Fragil X
        )

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                    [id] => 364
                    [name] => Turner syndrome
                    [description] => Turner syndrome is caused by the absence of one set of genes from the short arm of one X chromosome. In patients with 45,X karyotype, about two thirds are missing the paternal X chromosome. In addition to monosomy X, a similar clinical picture is found with a 46,XXiq karyotype and in some individuals with mosaic karyotypes. A deletion of the SHOX gene can cause a similar skeletal phenotype known as Leri-Weill dyschondrosteosis.


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                    [created] => 2008-06-06 21:58:53
                    [modified] => 2008-12-16 21:33:28
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            [1] => Array
                (
                    [id] => 420
                    [name] => Trisomy 18
                    [description] => Trisomy 18, also called Edwards syndrome, is a chromosomal condition that is associated with low birth weight; a small, abnormally shaped head; a small jaw; a small mouth; and clenched fists with overlapping fingers. Infants born with trisomy 18 have mental retardation, heart defects, and organ abnormalities affecting most systems of the body. Affected individuals have an extremely high mortality rate; only 5 percent to 10 percent of infants born with trisomy 18 survive the first year of life
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                    [created] => 2008-06-19 17:24:39
                    [modified] => 2008-12-16 20:00:44
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            [2] => Array
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                    [id] => 646
                    [name] => Fragile X Syndrome
                    [description] => Fragile X syndrome is the most common cause of inherited mental retardation, seen in approximately one in 1,200 males and one in 2,500 females. Males with fragile X syndrome usually have mental retardation and often exhibit characteristic physical features and behavior [Hagerman and Silverman, 1991; Warren and Nelson, 1994]. Affected females exhibit a similar, but usually less severe phenotype.The syndrome is associated with the expansion (excessive repetition) of a single trinucleotide gene sequence (CGG) on the X chromosome, and results in a failure to express the FMR-1 protein which is required for normal neural development. There are four generally accepted forms of Fragile X syndrome which relate to the length of the repeated CGG sequence; Normal (29-31 CGG repeats), Premutation (55-200 CGG repeats), Full Mutation (more than 200 CGG repeats), and Intermediate or Gray Zone Alleles (40 - 60 repeats).
The diagnosis of fragile X syndrome was originally based on the expression of a folate-sensitive fragile site at Xq27.3 (FRAXA) induced in cell culture under conditions of folate deprivatio.Also, interpretation of the cytogenetic test for fragile X syndrome is complicated by the presence of other fragile sites in the same region of the X chromosome (FRAXD, FRAXE, and FRAXF). 
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                    [omim_ref] => 309550
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                    [ICD10_ref] => Q99.2
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                    [emedicine_ref] => ped/800
                    [diseasesdb_ref] => 4973
                    [mesh_ref] => D005600
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                    [created] => 2008-08-28 22:38:00
                    [modified] => 2008-12-15 20:19:35
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            [3] => Array
                (
                    [id] => 739
                    [name] => Diandric triploidy
                    [description] => Diandric triploidy can result from fertilization of a haploid ovum by either a diploid sperm, or by two haploid sperm and can result in a XXX, XXY, or XYY genotype. The majority of triploid cases are of paternal origin, with 66% attributed to fertilization by two sperm, 24% due to fertilization with a diploid sperm, and 10% resulting from fertilization of a diploid oocyte. 

Phenotypically, diandric triploidy conceptuses are associated with an enlarged placenta that is histology consistent with a partial hydatidiform mole.  In the case described above, the triploid conceptuses occurred in subsequent pregnancies, and neither showed evidence of a partial hydatidiform mole suggesting that the triploidy was attributable to maternal origin. A suggested maternal mechanism resulting in triploidy is nondisjunction in meiosis I or meiosis II of oogenesis. 


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                    [created] => 2008-10-02 22:52:19
                    [modified] => 2008-12-16 14:28:14
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            [4] => Array
                (
                    [id] => 752
                    [name] => Trisomy 13
                    [description] => Trisomy 13, also called Patau syndrome, is a chromosomal condition that is associated with severe mental retardation and certain physical abnormalities. These abnormalities include small eyes that may exhibit a split in the iris (coloboma), an opening in the roof of the mouth (a cleft palate) and/or a cleft lip, weak muscle tone (hypotonia), skeletal abnormalities, an increased risk of heart defects, and other medical problems. Affected individuals rarely live past infancy because of the life-threatening medical problems associated with this condition
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                    [created] => 2008-10-14 22:29:08
                    [modified] => 2008-12-16 20:04:13
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                    [test] => 0
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