Partial trisomy 10p in two generations. 1978

I W Lurie, and G I Lazjuk, and D B Gurevich, and G I Kravtzoa, and M K Nedzved, and I A Shved

Two cases of partial 10p trisomy due to a t(10;20)(p12;p12) in two generations of a family are presented. Analysis of 20 known cases of such aberrations confirmed the opinion of Schleiermacher et al. (1974) that partial trisomy 10p is a distinct clinically recognizable entity. The most important diagnostic features of this syndrome are dolichocephaly, prominent forehead, wide open sutures and fontanelles, broad root of the nose, cleft lip and palate, clubfoot, and cystic changes in kidneys.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007621 Karyotyping Mapping of the KARYOTYPE of a cell. Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D007690 Polycystic Kidney Diseases Hereditary diseases that are characterized by the progressive expansion of a large number of tightly packed CYSTS within the KIDNEYS. They include diseases with autosomal dominant and autosomal recessive inheritance. Kidney, Polycystic,Polycystic Kidney,Polycystic Kidney Disease,Polycystic Kidneys,Polycystic Renal Disease,Disease, Polycystic Kidney,Disease, Polycystic Renal,Diseases, Polycystic Kidney,Diseases, Polycystic Renal,Kidney Disease, Polycystic,Kidney Diseases, Polycystic,Kidneys, Polycystic,Polycystic Renal Diseases,Renal Disease, Polycystic,Renal Diseases, Polycystic
D008297 Male Males
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D002906 Chromosomes, Human, 6-12 and X The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome. Chromosomes C,Group C Chromosomes,Chromosomes, Human, 6-12,Chromosome, Group C,Chromosomes, Group C,Group C Chromosome
D002971 Cleft Lip Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region. Harelip,Cleft Lips,Harelips,Lip, Cleft,Lips, Cleft
D002972 Cleft Palate Congenital fissure of the soft and/or hard palate, due to faulty fusion. Cleft Palate, Isolated,Cleft Palates,Palate, Cleft,Palates, Cleft
D003025 Clubfoot A deformed foot in which the foot is plantarflexed, inverted, and adducted. Equinovarus,Talipes Equinovarus,Clubfeet,Clubfeet, Congenital,Clubfoot, Congenital,Congenital Talipes Equinovarus,Pie Torcido,Congenital Clubfeet,Congenital Clubfoot,Pie Torcidos,Talipes Equinovarus, Congenital
D005260 Female Females

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