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Low-set ears
Known as:
Lowset ears
, Low-set ear
, EARS SET LOW
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Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the…
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National Institutes of Health
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Related topics
Related topics
50 relations
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
Acrootoocular Syndrome
Acrorenal mandibular syndrome
BRANCHIOOTIC SYNDROME 1
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
1985
1985
Partial trisomy 12q24.31----qter.
ELOfZA Helena
,
Tajara
,
+10 authors
Saco Paulo
Journal of Medical Genetics
1985
Corpus ID: 28698141
Clinical details of a male child with the karyotype 46,XY,-4,+der(4),t(4;12) (p16;q24.31)mat are reported and compared with those…
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1984
1984
Partial trisomy 16 as a result of familial 16;20 translocation.
E. Davison
,
J. Beesley
Journal of Medical Genetics
1984
Corpus ID: 2612285
Although trisomy 16 is well recognised in spontaneous abortuses, it is infrequent in livebirths and there is little information…
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1983
1983
Clinical features of monosomy 10qter.
A. Zatterale
,
L. Pagano
,
+5 authors
V. Ventruto
Annales de Genetique
1983
Corpus ID: 38860786
The authors report a 10qter deletion in a 16-month-old boy. The patient's phenotype includes: low birth weight, mental and growth…
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1976
1976
A new case of trisomy for the distal part of 13q due to maternal translocation, t(9;13)(p21;q21)
M. Jotterand
,
E. Juillard
Human Genetics
1976
Corpus ID: 8137330
SummaryThe first child of a mother with a balanced translocation (9;13) revealed a trisomy for the distal third of 13q. Clinical…
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1976
1976
[Trisomy 10 p. A previously reported case explained by binding].
C. Turleau
,
M. Doussau de Bazignan
,
M. Roubin
,
J. de Grouchy
Annales de Genetique
1976
Corpus ID: 34987855
A previously reported male infant having died at 4 months, was considered trisomic Cp, his mother being carrier of balanced…
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Highly Cited
1975
Highly Cited
1975
Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21).
P. Allderdice
,
N. Browne
,
D. P. Murphy
American Journal of Human Genetics
1975
Corpus ID: 43475901
Close phenotypic similarity between two cases carrying a rec(3) dup q,inv(3) (p25q21), 12 additional infants from the same inv (3…
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Review
1975
Review
1975
Trisomy 22. Two new cases and delineation of the phenotype.
V. Penchaszadeh
,
R. Coco
,
Seccion de Genetica
Journal of Medical Genetics
1975
Corpus ID: 8786778
Two unrelated children, not affected with Down's syndrome, with strikingly similar phenotypes and an extra G-like chromosome are…
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1975
1975
Familial partial trisomy of the long arm of chromosome 10 (q24-26).
H. Moreno-Fuenmayor
,
E. Zackai
,
W. Mellman
,
M. Aronson
Pediatrics
1975
Corpus ID: 32359194
Two fourth cousins with a strikingly similar pattern of malformation and who have an unbalanced translocation (46, XY, -17, +t…
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1974
1974
21 Monosomy in a retarded female infant
Halloran Kh
,
Breg Wr
,
Mahoney Mj
Journal of Medical Genetics
1974
Corpus ID: 204166974
A 20-month-old female infant with complete monosomy 21 is described. She has marked mental and physical retardation…
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1971
1971
A case of cri-du-chat associated with cataracts and transmitted from a mother with a 4-5 translocation.
H. Grotsky
,
L. Hsu
,
K. Hirschhorn
Journal of Medical Genetics
1971
Corpus ID: 36290203
The cat cry syndrome (cri-du-chat) was first described by Lejeune et al (1963) in a group of patients with mew-like cry and other…
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