RESUMEN
A previously reported patient with trisomy for the distal part of 6q was shown by R-banding to be trisomic for 6q26qter, due to a t(6;22)(q26;p12) mat. Altogether nine patients with 6qter trisomy have been reported. The main features of the 6qter trisomy syndrome are: severe mental and growth retardation; acrocephaly and brachycephaly; a carp-shaped mouth; micrognathia; a very short neck with unusual anterior webbing; joint contractures; the absence of severe inner organ malformations; and survival into adulthood.
Asunto(s)
Anomalías Múltiples/genética , Cromosomas Humanos 6-12 y X , Trisomía , Niño , Bandeo Cromosómico , Trastornos del Crecimiento/genética , Humanos , Discapacidad Intelectual/genética , Masculino , SíndromeRESUMEN
An 11-year-old girl with 10q26qter deletion is described and compared with another patient reported in the literature. The most characteristic features of monosomy 10qter seem to be: severe mental retardation; growth retardation; microcephaly; and facial dysmorphism with a long and triangular facies, a broad and prominent nasal bridge, a poorly developed tip of the nose, a short philtrum, and flattened angles of the mandible. Several of these features are opposed in type and countertype to features of trisomy 10qter.
Asunto(s)
Deleción Cromosómica , Cromosomas Humanos 6-12 y X , Niño , Cara/anomalías , Femenino , Trastornos del Crecimiento/genética , Humanos , Discapacidad Intelectual/genética , Microcefalia/genética , SíndromeRESUMEN
The phenotype of an 18-month-old male infant trisomic for the proximal portion of the long arm of chromosome 14 was reported and compared with that of previously reported cases. For the identification of the resulting syndrome, the most consistent features are psychomotor and growth retardation, and an oval, dysmorphic facies which includes a distinctive form of the mouth and a prominent nose. The trisomy in the child reported here is due to a familial translocation transmitted by the mother and present in at least three generations: t(12;14)(q24.4;q21). The 12q duplication in the child's genome is minimal and does not seem to have contributed to his phenotype.
Asunto(s)
Anomalías Múltiples/genética , Aberraciones Cromosómicas , Cromosomas Humanos 13-15 , Cromosomas Humanos 6-12 y X , Translocación Genética , Trisomía , Adulto , Disostosis Craneofacial/genética , Femenino , Trastornos del Crecimiento/genética , Humanos , Lactante , Recién Nacido , Cariotipificación , Masculino , Anomalías de la Boca/genética , Deformidades Adquiridas Nasales , Linaje , Trastornos Psicomotores/genéticaRESUMEN
Two patients with trisomy for 18p and the proximal segment of 18q (trisomy 18q-) are reported and compared with similar cases from the literature. The phenotype of trisomy 18q- resembles that of full trisomy 18 but differs mainly in the birdlike face, small mouth, more pronounced microretrognathia, minor skeletal dysplasia and inner organ malformations, and less sever vital prognosis.
Asunto(s)
Cromosomas Humanos 16-18 , Trisomía , Anomalías Múltiples/genética , Mapeo Cromosómico , Cromosomas Humanos 13-15 , Femenino , Humanos , Recién Nacido , Masculino , Síndrome , Translocación GenéticaRESUMEN
The mosaicism 46,XX/46,XX,del(10)(p13)/47,XX, +r/47,XX,del(10)(p13), +r was found in the lymphocytes and the fibroblasts of a patient with the following : profound mental retardation; craniofacial dysmorphism with frontal bossing, fine eyebrows, a large hypoplastic nasal bridge, prognathism of the upper jaw, thick lips; a long and thin neck; congenital heart disease; skeletal malformations, with club feet; and hypotonia and lax ligaments. These malformations, compatible with the trisomy 10p syndrome, suggest that the supernumerary ring chromosome was composed of 10p material. An increase of HK1 and GOT1 activities was found. This is in favour of a partial trisomy of chromosome 10. The relative frequencies of the clones constituting the mosaic vary from tissue to tissue and with time.
Asunto(s)
Cromosomas Humanos 6-12 y X , Mosaicismo , Trisomía , Anomalías Múltiples/genética , Preescolar , Deleción Cromosómica , Mapeo Cromosómico , Dermatoglifia , Femenino , Marcadores Genéticos , Humanos , Lactante , Recién Nacido , Discapacidad Intelectual/genética , FenotipoRESUMEN
A 22-month-old boy was found to be trisomic for distal 14q due to malsegregation of a t(10;14)(q26.3;q32.1)pat. This observation and seven others reported in the literature permit the delineation of the corresponding clinical syndrome, which includes the following : intra-uterine and postnatal growth retardation; craniofacial dysmorphism : a large facies, chubby cheeks, facial asymmetry, hypertelorism, a broad nose, a short prominent philtrum, a carp-shaped mouth, micrognathia, low-set ears with a prominent antitragus; nipples set high and far apart; short upper limbs; hypogenitalism in the male; internal organ malformations : brain, lung, and heart defects, the last often responsible for an early death. This syndrome resembles that of complete trisomy 14q. The border of the index case was mentally deficient; he carried the paternal translocation as well as an extra unidentifiable fragment translocated onto the short arm of the rearranged chromosome 10.