Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Complete or partial trisomy 14 is compatible with life. However, in the former case, mosaicism is probably always present. A case of trisomy 14 mosaicism is reported. Comparisons are made with other trisomy 14, trisomy 14 mosaicism, and duplication 14q cases previously reported. As a group, they share some clinical manifestations. The phenotype consists of multiple congenital anomalies, including microcephaly, broad nose, wide mouth, high or cleft palate, micrognathia, congenital heart disease, intrauterine growth retardation, and mental retardation. The present patient also has asthma, eczema, and developmental asymmetry.
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PMID:Trisomy 14 mosaicism: case report and review. 47 33

Partial trisomy 14 as a 47, + 14q- karyotype is compatible with life and this state is distinguished on cytogenetic, not clinical, grounds. Clinical features are nonspecific and these children are most obvious because of growth and mental retardation. This extends and broadens the indications for chromosome analysis. The significance of finding a +14q- karyotype must, however, be considered in the knowledge that ESA fragments have been associated with disorders that do not have a chromosome aberration pathogenesis. A balanced translocation should always be sought in parents of affected children. Finally, the proximal long arm of chromosome 14 apparently has at least 2 sites of relative fragility: 14q12 in vitro and 14q22 in vivo. Blood group analyses have been uninformative (2, 5).
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PMID:Partial trisomy of chromosome 14: (+14q-). 95 11

We report on a 5-year-old boy with failure to thrive, mental retardation, a broad nose, hypertelorism, slight antimongoloid slant palpebral fissures, mild ptosis, microphthalmia, short and wide neck, apparently acyanotic tetralogy of Fallot, dislocation of the left hip, generalized linear and patchy hyperpigmentation, micropenis, and undescended testes. He had mosaicism of 46,XY/47,XY, + 14 in a ratio of 3:1. Comparisons are made with the other reports of trisomy 14 mosaicism and relationship to incontinentia pigmenti.
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PMID:Trisomy 14 mosaicism in a 5-year-old boy. 188 54

A boy with infantile spasms was found to have a balanced de novo translocation, 6q;14q. The karyotype was 46,XY,t(6;14)(q27;q13.3). He had mental retardation and microcephaly but no dysmorphic features. Whether or not there is a relationship between the translocation in our patient and his infantile spasms is unknown. If there is a connection, a gene or genes on chromosome 14 may be implicated in the seizure disorders that are common in patients with ring chromosome 14 syndrome or proximal partial trisomy 14 syndrome.
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PMID:De novo reciprocal translocation t(6;14)(q27;q13.3) in a child with infantile spasms. 400 89

Complex chromosomal rearrangements (CCRs) are usually associated with infertility or subfertility in male carriers. If fertility is maintained, there is a high risk of abnormal pregnancy outcome. Few male carriers have been identified by children presenting with mental retardation/congenital malformations (MR/CM) or by spontaneous abortions of the spouses. We report a de novo CCR with five breakpoints involving chromosomes 4, 10 and 14 in a male carrier who was ascertained through a son presenting with MR/CM due to an unbalanced karyotype with partial trisomy 14 and partial monosomy 4. The child has a healthy elder brother. In the family history no abortions were reported. No fertility treatment was necessary. Cytogenetic analysis from the affected son showed a reciprocal translocation t(4;10) with additional chromosomal material inserted between the translocation junctions in the derivative chromosome 10. The father showed the same derivative chromosome 10 but had additionally one aberrant chromosome 14. Further molecular cytogenetic analyses determined the inserted material in the aberrant chromosome 10 as derived from chromosome 14 and revealed a small translocation with material of chromosome 4 inserted into the derivative chromosome 14. Thus the phenotype of the son is supposed to be associated with a partial duplication 14q13-->q24.1 and a partial monosomy 4q27-->q28. Including our case we are aware of eleven CCR cases with fertile male carriers. In eight of these families normal offspring have been reported. We propose that exceptional CCRs in fertile male carriers might form comparatively simple pachytene configurations increasing the chance of healthy offspring.
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PMID:A complex chromosomal rearrangement with a translocation 4;10;14 in a fertile male carrier: ascertainment through an offspring with partial trisomy 14q13-->q24.1 and partial monosomy 4q27-->q28 [corrected]. 1500 58

Trisomy 14 mosaicism is a rare chromosomal defect with only 20 cases reported in the literature. We describe a child with trisomy 14 mosaicism who has some previously described and some novel phenotypic features. Trisomy 14 mosaicism was demonstrated in both blood lymphocytes and from skin fibroblasts, and with normal parents and siblings. This child had no evidence of neurodevelopmental delay at 6 years of age on formal testing, suggesting that mental retardation is not universal in this condition. This child did not demonstrate neurodevelopmental delay, which as been reported universally among children with trisomy 14 mosaicism.
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PMID:Trisomy 14 Mosaicism: a case without evidence of neurodevelopmental delay and a review of the literature. 1789 42

We report on a 33-year-old patient with mosaic interstitial duplication on chromosome 14q11.2-14q22.1~22.3 with severe physical and mental retardation and multiple dysmorphisms. This patient was admitted to our pediatric hospital due to severe dehydration and malnutrition as a result of food refusal. It is an actual phenomenon that patients with severe inborn clinical problems nowadays survive due to progress and care of modern medicine. Nevertheless, transition from pediatric care to adult medicine seems to remain a challenging problem. We demonstrate the clinical course as well as clinical and genetic findings of this adult patient. Comparisons are made to previously reported cases with mosaic trisomy 14 involving a proximal interstitial duplication on the long arm of chromosome 14.
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PMID:A 33-year-old male patient with paternal derived duplication of 14q11.2-14q22.1~22.3: clinical course, phenotypic and genotypic findings. 2682 77