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Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In 30 cases of trisomies 13, 18 and 21, the placenta showed different lesions of hypotrophy, immaturity, hydrops, trophoblastic recurrences or cysts and mineralisation of the trophoblastic basal lamina. These are non specific lesions and can be observed in a variety of conditions, but their association is striking in most cases of trisomies. Different pathological patterns may thus evoke a trisomy, though that diagnosis can only be ascertained by chromosome analysis.
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PMID:[The placenta and trisomies 13, 18, 21]. 253 99

Among a great number of chromosomal aberrations, the absence of cerebral malformations does not explain the reason for mental retardation and will lead to interpreting as normal the echography of a fetus which, after birth, will be revealed to have a trisomy. Trisomic brain anomalies are not constant or obligatory, but some of them (holoprosencephaly for 61% of trisomy-13 and agenesis of corpus callosum for 8% of trisomy-18) have a degree of specificity. As for cerebral and cerebellar heterotopias, they cannot be considered as real malformations as they are frequently found in premature newborns and disappear with maturation, thus proving that they are a sign of immaturity. There is still a lot of work to be done before we are able to meet the request for fetal integrity formulated by contemporary couples.
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PMID:Congenital malformations and chromosomal aberrations. 345 43

The eyes of three patients with trisomy 18, the second most common human autosomal trisomy, were examined histopathologically. In the posterior retina transmission and scanning electron microscopic examinations reveal cytological details characteristic of immature neural retinas. We are able to confirm the report that the posterior retinal pigment epithelium in trisomy 18 has a paucity of mature melanosomes and, in fact, resembles human albino retinal pigment epithelium. The asociation of hypopigmentation and retinal immaturity suggests pigmentation plays a role in the control of the maturation of the neural retina.
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PMID:Retinal anomalies in trisomy 18. 690 10

Sex determination and differentiation depend on differentiation of the indifferent gonad to the testis or ovary, which leads to masculine or feminine differentiation of internal and external genitalia. Recently, genes involved in this cascade have been identified with the advance of molecular genetical analysis. XY gonadal dysgenesis, this is a condition that has XY chromosome but is characterized by the indifferent testis. There are complete and incomplete types. Complete type has bilateral gonads of cordee, does not show physical characteristics of Turner's syndrome, has the uterus and ovaries, and has the vagina in female type, though the external genitalia are immature. Incomplete type is characterized by bilateral testicular hypoplasia(male pseudohermaphroditism) or unilateral testicular hypoplasia and bilateral restiform gonads(mixed gonadal dyspenesis), and the sexuality of the external genitalia is unclear. XX gonadal dysgenesis, complete type is characterized by bilateral restiform gonads, female type internal and external genitalia and sexual immaturity, though it does not show any characteristics of Turner's syndrome. It presents hypergonadotropic hypogonadism endocrinologically. It shows a familial incidence with autosomal recessive inheritance, and sensorineural deafness is accompanied in some cases. Incomplete type has rudimentary ovaries and show a varying degree of secondary sexual characteristics. Mixed dysgenesis, many cases have XO/XY mosaic and this dysgenesis is characterized by unilateral hypoplastic testis and contralateral restiform gonad. It may occur in cases of incomplete type XY gonadal dysgenesis. Trisomy X, cases of trisomy X have three X chromosomes as this term indicates. There are some cases of polisomy with four or more X chromosomes. The frequency of trisomy X has been reported to be one in 1,000 births of female, which means that it is a relatively common chromosomal aberration. It has been reported that about 20% of cases of trisomy X have sexual dysfunction, predominantly with primary amenorrha.
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PMID:[XY type gonadal dysgenesis, trisomy X and variants]. 1496 37