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Related Concept Videos

X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
X-Inactivation01:58

X-Inactivation

The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
X-inactivation01:58

X-inactivation

The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.

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A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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Triple X syndrome with rare phenotypic presentation.

Sujatha Jagadeesh1, Gazala Jabeen, Lathaa Bhat

  • 1Department of Genetics, A Unit of Mediscan Systems, 197, Dr Natesan Road, Mylapore, Chennai, India. fcrfchennai@yahoo.com

Indian Journal of Pediatrics
|September 2, 2008
PubMed
Summary

Triple X syndrome, a rare chromosomal condition (47, XXX), can cause developmental issues. This report details two cases diagnosed with this anomaly, highlighting associated congenital anomalies.

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Area of Science:

  • Genetics
  • Human Biology
  • Reproductive Medicine

Background:

  • Triple X syndrome (47, XXX) is a numerical chromosomal anomaly caused by nondisjunction during meiosis I.
  • It is a relatively rare condition, often associated with neurodevelopmental and functional challenges.
  • While some abnormalities have been linked to Triple X syndrome, consistent phenotypic patterns are not well-established.

Observation:

  • This report presents two cases diagnosed with Triple X syndrome at the authors' center.
  • The first case involved a fetus diagnosed via Fetal Blood Sampling, exhibiting cleft lip and palate.
  • The second case was a child presenting with multisystem anomalies, including cleft lip and palate, with a confirmed 47, XXX karyotype.

Findings:

  • Both reported cases were diagnosed with Triple X syndrome (47, XXX).
  • Congenital anomalies, specifically cleft lip and palate, were observed in both cases.
  • The findings contribute to the understanding of potential phenotypic variations in Triple X syndrome.

Implications:

  • These cases underscore the importance of genetic testing for Triple X syndrome in fetuses and children with specific congenital anomalies.
  • Further research is needed to elucidate the spectrum of phenotypic presentations associated with Triple X syndrome.
  • Understanding these associations can aid in earlier diagnosis and management of affected individuals.