Results 281 to 290 of about 105,581 (338)
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Human Genetics, 1975
It is reported on a boy of 4 years 9 months with trisomy of the distal part of the short arm of a chromosome 10, due to a balanced 7/10 translocation in the father. Besides multiple minor dysmorphias the patient showed severe mental retardation, small stature, hypotonia, retarded bone age.
K P, Grosse +3 more
openaire +2 more sources
It is reported on a boy of 4 years 9 months with trisomy of the distal part of the short arm of a chromosome 10, due to a balanced 7/10 translocation in the father. Besides multiple minor dysmorphias the patient showed severe mental retardation, small stature, hypotonia, retarded bone age.
K P, Grosse +3 more
openaire +2 more sources
Human Genetics, 1978
Two sibs with partial trisomy-5p are reported. Their father is the carrier of a balanced translocation 46,XY,t(4q+;5p-). Twelve cases of partial trisomy-5p--including our two patients--have been reported. The most common abnormalities found were mental retardation, short stature, dolichocephaly, prominent nasal bridge, prognathism, seizures, hypotonia,
E, Yunis +6 more
openaire +2 more sources
Two sibs with partial trisomy-5p are reported. Their father is the carrier of a balanced translocation 46,XY,t(4q+;5p-). Twelve cases of partial trisomy-5p--including our two patients--have been reported. The most common abnormalities found were mental retardation, short stature, dolichocephaly, prominent nasal bridge, prognathism, seizures, hypotonia,
E, Yunis +6 more
openaire +2 more sources
Radiology, 1969
In April 1960, Patau and others described a characteristic pattern of numerous anomalies associated with a trisomy in the 13–15 group (also known as D1 trisomy) (13). Although there have been over thirty published examples of trisomy 13–15, only brief mention of the disorder has been made in the radiological literature (1).
A E, James +3 more
openaire +2 more sources
In April 1960, Patau and others described a characteristic pattern of numerous anomalies associated with a trisomy in the 13–15 group (also known as D1 trisomy) (13). Although there have been over thirty published examples of trisomy 13–15, only brief mention of the disorder has been made in the radiological literature (1).
A E, James +3 more
openaire +2 more sources
Humangenetik, 1974
A male child with large ears, large and upturned nose, everted lower lip, strabismus, brachydactyly with dystrophic fingernails, bilateral, deep, plantar creases, pes-cavovarus deformity and mild mental retardation is presented. Chromosome analyses revealed that he had an extra number 8 chromosome (46,XY/47,XY,+8).
E, Tuncbilek, C, Halicioglu, B, Say
openaire +2 more sources
A male child with large ears, large and upturned nose, everted lower lip, strabismus, brachydactyly with dystrophic fingernails, bilateral, deep, plantar creases, pes-cavovarus deformity and mild mental retardation is presented. Chromosome analyses revealed that he had an extra number 8 chromosome (46,XY/47,XY,+8).
E, Tuncbilek, C, Halicioglu, B, Say
openaire +2 more sources