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At least 631 records · Page 35Linked to original sources
PubMed2006

Congenital anomalies and developmental delay in a boy with double chromosome 6 derived supernumerary marker.

The frequency of small supernumerary marker chromosomes has been estimated to approximately 0.45 per 1000 newborns. They are usually seen as single marker chromosomes in a mosaic state. Two cytogenetically identical markers have been observed only occasionally. We report on a boy, with congenital heart defect, neonatal hypotonia, hypogenitalism, delayed psychomotor development and mild dysmorphic facial features. The GTG karyotype performed on peripheral blood lymphocytes revealed a mosaic male karyotype with three cell lines. One cell line had a normal karyotype. In the other two either single or double chromosome 6 derived supernumerary markers were present, leading to partial trisomy or partial tetrasomy of chromosome 6, respectively.

Abnormalities, Multiple↗
PubMed1991

Contingent provision of social referential information by parents of children with and without developmental delays.

Social referencing involves using information from other persons to guide behavior and affect in ambiguous situations. Children's behavior toward a stimulus paired with positive affective messages was compared to behavior toward a stimulus paired with fearful messages. Normally developing children, but not those with delays, showed evidence of behavior regulation, touching positive-message more than fearful-message toys. Parental communications were more regularly preceded by children's looks in dyads with normally developing children. Parents of children with delays often initiated unsolicited communications in addition to responding to children's initiations. Children with delays regulated behavior only when messages were contingent upon looks. Parental contingency was not associated with behavior regulation in dyads with normally developing children.

Affect↗
PubMed1990

[Dubowitz syndrome: a dysmorphism syndrome with developmental delay, transitory short stature, hyperactive behavior and atopic dermatitis].

The Dubowitz-syndrome, a rare, autosomal-recessive condition, was seen in a 6-year-old female patient. Verbal, fine motor, and social development were severely retarded. Behavioral disturbances, predominantly hyperactivity were apparent. Short stature of unknown origin became evident during infancy and early childhood. Atopic dermatitis and specific sensitivity to inhalant and nutritive allergens was found. A pattern of minor anomalies included inner epicanthic folds, hypertelorism, flat nasal bridge, globular nasal tip, coarse lips, and retrogenia as well as pes planovalgus, and a sacral dimple.

Abnormalities, Multiple↗
PubMed1989

Meiotic multivalent orientation and cell developmental delay.

In the heterozygote for the combination of an interchange (662W;3R/6R) and a Robertsonian split (3R) of rye, one type of adjacent orientation leads to trisomy in the progeny. Pollen mother cells with adjacent orientation of the translocation quinquivalent or with a trivalent and a bivalent were delayed in their development and appeared at prometaphase and metaphase later than cells with alternate quinquivalents. Delay in cell development is ascribed to unfavorable (early) prophase positioning of chromosomes.

Anaphase↗
PubMed1989

[Spontaneous secretion of growth hormone in deep nocturnal sleep. II. Studies on hypophyseal dwarfism and constitutional developmental delay].

To evaluate the somatotropic function of the pituitary, the measurement of the spontaneous nocturnal secretion of GH is a rather suitable method. Whereas the provocation tests check the capacity of the gland after intensive stimulation, spontaneous secretion reflects the behaviour of the hypothalamohypophyseal system under everyday conditions. The investigation of 65 children with pituitary dwarfism showed in all cases a strong diminution of the GH secretion. Overlapping with the control group was hardly seen. The maxima measured during sleep were identical with those reached in the provocation tests. The subdivision in complete and partial GH deficiencies is more precise with measuring the spontaneous secretion than with provocation tests. Nocturnal spontaneous GH secretion was determined in 128 patients with constitutional delay of growth and adolescence. Also in these children provocation tests were performed simultaneously. Spontaneous GH secretion was found significantly diminished in all stages of puberty, compared to the controls (p less than or equal to 0.01). By contrast, the provocation tests showed no significant differences from controls. According to these results, the retarded growth of the patients is due to a relative GH deficiency. As is evident from the normal results of the provocation tests, no organic insufficiency of the pituitary is demonstrable. Rather a cybernetic disorder is responsible for the reduced hormone secretion.

Adolescent↗
PubMed1987

Variables influencing stimulus overselectivity and "tunnel vision" in developmentally delayed children.

Three variables (diagnosis, location of cues, and MA of learners) influencing stimulus control and stimulus overselectivity in autistic children were assessed. Eight autistic and 8 intellectually average children, matched on MA, were trained on two discrimination tasks; one task contained two "within-stimulus" (i.e., physically connected) cues; the other contained the same two cues presented "extra-stimulus" (i.e., physically separate). Generalization gradients were used following training to measure the degree of stimulus control acquired by each cue. Results showed: autistic subjects tended to respond overselectively only in the extra-stimulus condition; MA was positively correlated with breadth of learning; and when autistic children were overselective to one cue, some stimulus control was also acquired by the second cue. The notion of tunnel vision was discussed, as it may represent a "keystone" deficit interfering with stimulus control and learning by autistic children.

Adolescent↗