Ring chromosome 15 in child with a minor dysmorphism of phenotype

Rumenić, Lj.; Joksimović, I; Anaf, M.

doi:10.1007/bf00281895

Cited by 16 publications

(4 citation statements)

References 4 publications

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“…Since that time at least 25 cases have been reported [Jacobsen, 1966;Emberger et al, 1971;Forabosco et al, 1972;Stoll et al, 1975;Kawasaki et al, 1975;Rumenic et al, 1976;Ferrante et al, 1977;Pfeiffer et al, 1977;Fujita and Matsumoto, 1978;Scheibenreiter and Frisch, 1978;Schmid et al, 1978;Wisniewski et al, 1979;Fryns et al, 1979;Ledbetter et al, 1980;Gardner et al, 1980;Meinecke and Koske-Westphal, 1980;Kousseff, 1980;Yunis et al, 1981;Fryns et al, 1981;Moreau and Teyssier, 1982;Neri et al, 1983;Otto et al, 1984;Wilson et al, 1985;Kosztolanyi and Pap, 19861. Herein we report on 2 additional patients and review the literature.…”

Section: Introductionmentioning

confidence: 99%

Two patients with ring chromosome 15 syndrome

et al. 1988

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We report on 2 patients (3 1/2 year-old-male and 6-year-old female) with the ring 15 chromosome syndrome and speech delays and review 25 cases from the literature. The main characteristics of this syndrome include growth retardation (100%), variable mental retardation (95%), microcephaly (88%), hypertelorism (46%), and triangular facies (42%). Other frequent findings include delayed bone age (75%), brachydactyly (44%), speech delay (39%), frontal bossing (36%), anomalous ears (30%), café-au-lait spots (30%), cryptorchidism (30%), and cardiac abnormalities (30%). The average age at diagnosis was 8.1 years. The average maternal and paternal age at the time of birth was 28 and 31 years, respectively.

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Section: Introductionmentioning

confidence: 99%

Two patients with ring chromosome 15 syndrome

et al. 1988

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“…In general, patients with ring chromosome 15 present a mild to moderate mental retardation (Jacobsen 1966;Emberger et al 1971;Forabosco et at. 1972;Rumenic et al 1976;Fujita & Matsumoto 1978;Scheibenreiter & Frisch 1978;Schmid et al 1978;Fryns et at. 1979;Wisniewski et al 1979;Gardner et al 1980;Kouseff 1980;Ledbetter et al 1980;Meinecke et al, 1980;Moreau et at.…”

Section: Discussionmentioning

confidence: 99%

Ring chromosome 15 syndrome in an adult female

Matsuishi¹,

Yamada²,

Endo³

et al. 1996

J Intellect Disabil Res

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In this paper, the authors present the case of a 24-year-old female with ring 15 chromosome syndrome. Upon examination, the patient presented with severe mental retardation, dwarfism and microcephaly, along with other minor dysmorphic stigmata. We compared this case with three other adult female cases with this chromosomal aberration. As a result, the authors observed a somewhat dysharmonious profile between the level of mental retardation and behavioural findings in the four women, while sexual development and gonadal function seemed to be normal in all four cases.

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“…Jacobsen (1966) described an adult male patient as childish, speech impulsive, perseverating, with rapid alteration in mood. Rumenic et al (1976), Pfeiffer (1977) and Scheibenreiter & Frisch (1978) perceived their patients in genera! as willing, interested and with good social integradon.…”

Section: Discussionmentioning

confidence: 99%

Psychological findings in three children with ring 15 chromosome

Borghgraef

Berghe

1988

J intellect Disabil Res

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ABSTRACT. In this paper, the authors present a description of the clinical and psychological data of three girls with ring chromosome 15, These children were carefully observed and tested on their mental level and school skills, and the results are compared with the findings in the literature. In general, patients with ring 15 present a mild to moderate mental retardation, wish some language difficulties at early age, Observation of behaviour and social skills, present these patients as cordial, willing and with good social integration, despite their severe growth failure.

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Ring chromosome 15 in child with a minor dysmorphism of phenotype

Cited by 16 publications

References 4 publications

Two patients with ring chromosome 15 syndrome

Two patients with ring chromosome 15 syndrome

Ring chromosome 15 syndrome in an adult female

Psychological findings in three children with ring 15 chromosome

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