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Partial trisomy for the distal part of the long arm of chromosome 15--a new syndrome? 1986

K Kaneko, and H Katabuchi, and H Maruta

A malformed male neonate with partial trisomy 15q dist (q22----qter), because of malsegregation of a balanced translocation (7; 15) (p22; q22) in his mother, is described. Comparison of this patient with thirteen previously published cases of this trisomy reveals a pattern of common features including: peculiar craniofacial dysmorphism--facial asymmetry, antimongoloid slant, narrow or short palpebral fissures, prominent nose, long upper lip, micro or retrognathia, high arched palate, low set ears, malformed ears, protuberant occiput--, abnormal fingers and toes, short neck, mental and growth retardation, cardiopathy, respiratory distress etc.. The main clinical findings seem to be similar enough to justify the establishment of a new entity of partial trisomy 15q dist syndrome.

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
D008297 Male Males
D010159 Palate The structure that forms the roof of the mouth. It consists of the anterior hard palate (PALATE, HARD) and the posterior soft palate (PALATE, SOFT). Incisive Papilla,Incisive Papillas,Palates,Papilla, Incisive,Papillas, Incisive
D012127 Respiratory Distress Syndrome, Newborn A condition of the newborn marked by DYSPNEA with CYANOSIS, heralded by such prodromal signs as dilatation of the alae nasi, expiratory grunt, and retraction of the suprasternal notch or costal margins, mostly frequently occurring in premature infants, children of diabetic mothers, and infants delivered by cesarean section, and sometimes with no apparent predisposing cause. Infantile Respiratory Distress Syndrome,Neonatal Respiratory Distress Syndrome,Respiratory Distress Syndrome, Infant
D002901 Chromosomes, Human, 13-15 The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15. Chromosomes D,Group D Chromosomes,Chromosome, Group D,Chromosomes, Group D,Group D Chromosome
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015 Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. Multiple Abnormalities
D014314 Trisomy The possession of a third chromosome of any one type in an otherwise diploid cell. Partial Trisomy,Chromosomal Triplication,Chromosomal Triplications,Partial Trisomies,Trisomies,Trisomies, Partial,Trisomy, Partial
D063173 Retrognathia A physical misalignment of the upper (maxilla) and lower (mandibular) jaw bones in which either or both recede relative to the frontal plane of the forehead. Mandibular Retroposition,Mandibular Retrusion,Maxillary Retroposition,Maxillary Retrusion,Retrognathism,Mandibular Retropositions,Mandibular Retrusions,Maxillary Retropositions,Maxillary Retrusions,Retrognathias,Retrognathisms,Retroposition, Mandibular,Retroposition, Maxillary,Retropositions, Mandibular,Retropositions, Maxillary,Retrusion, Mandibular,Retrusion, Maxillary,Retrusions, Mandibular,Retrusions, Maxillary

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