ABSTRACT
We report a case of neonatal alloimmune thrombocytopenic purpura after an uneventful pregnancy. The baby had systemic purpura at birth and his platelet count was 6 X 10(9)/1. He was treated with maternal platelets and one week later his platelets were normalized. It was the second pregnancy of the mother; she received a blood transfusion after the delivery of her first child. The mother was HLA DR3 positive, an antigen frequently implicated in neonatal alloimmune thrombocytopenic purpura. The antibody reacted with both P1A1 positive and negative platelets which excluded anti-P1A1 type, the antibody most involved in neonatal alloimmune thrombocytopenia. This antibody reacted with platelets of 46 out of 53 random donors (87%); this approached the 90.8% frequency of Bak(a) reported in the Netherlands. Later this antibody was typed as anti-Bak(a). A discussion and a review of the literature is given.
Subject(s)
Antigens, Human Platelet , Blood Platelets/immunology , Isoantigens/immunology , Purpura, Thrombocytopenic/immunology , Blood Grouping and Crossmatching , HLA-DR3 Antigen , Humans , Infant, Newborn , MaleABSTRACT
Pentasomy 21 was found to characterize the proliferating cells in a case of transient congenital acute leukemia (or congenital acute leukemia) with spontaneous remission. The patient was phenotypically normal, and cytogenetically no evidence could be found for the existence of a mosaic with a normal cell line and one with more than two No 21 chromosomes. The importance of these findings is discussed.
Subject(s)
Chromosomes, Human, 21-22 and Y , Leukemia/congenital , Neoplasm Regression, Spontaneous , Polyploidy , Acute Disease , Humans , Infant, Newborn , Leukemia/genetics , Leukemoid Reaction/genetics , MaleSubject(s)
Chromosome Aberrations/diagnosis , Chromosomes, Human, 6-12 and X , Trisomy , Chromosome Disorders , Female , Humans , Infant, Newborn , Male , SyndromeABSTRACT
This report describes a polymalformed 18-month-old male with an interstitial deletion of the long arm of chromosome 8. His karyotype is: 46,XY,del(8)(q21).
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Deletion , Chromosomes, Human, 6-12 and X , Humans , Infant , Karyotyping , Male , Muscle Hypotonia/genetics , Psychomotor Disorders/geneticsABSTRACT
The diagnosis of infantile neuro-axonal dystrophy (INAD) in a 5-year-old patient was confirmed by the ultrastructural study of neuromuscular, skin and conjunctival biopsy specimens. Abnormal networks of smooth membranous, lamellar and tubular profiles were found in presynaptic terminals and in conjunctival and dermal axons. INAD is the first neurological disease outside the group of storage disorders in which skin and conjunctival biopsies contribute significiantly to the diagnosis.
Subject(s)
Conjunctiva/pathology , Lipidoses/pathology , Skin/pathology , Axons/ultrastructure , Biopsy , Child, Preschool , Conjunctiva/ultrastructure , Humans , Male , Microscopy, Electron , Skin/ultrastructureABSTRACT
The 18q- syndrome is described in a mother and her daughter. In both of them an identical, apparently balanced 18q-/14p+ translocation was found (Karyotype: 46,XX,t(14;18)(p11;q21), suggesting that chromosomal material was lost in the process of translocation. The segment deleted and responsible for the 18q- phenotype must be located in or near band 18q21, in which the break is assumed to have occurred.
Subject(s)
Chromosome Deletion , Chromosomes, Human, 16-18 , Intellectual Disability/genetics , Child , Female , Humans , Karyotyping , Middle Aged , Syndrome , Translocation, GeneticABSTRACT
The cardiovascular findings in 9 patients with Turner's syndrome and 9 patients with Noonan's syndrome are described. Of the 9 patients with Turner's syndrome, 4 had coarctation of the aorta, 4 aorta stenosis, and the remaining patient both these lesions. All patients with Noonan's syndrome had pulmonary valve stenosis. In addition, 2 children had an atrial septal defect and 1 an atrial septal defect associated with mild supravalvar pulmonary stenosis and anomalous drainage of the right upper pulmonary veins. In the majority of patients the electrocardiogram was different from the pattern usually seen in pulmonary valve stenosis: the QRS axis in the frontal plane was superiorly oriented in 7 out of 9 cases and in 2 patients evidence of right ventricular hypertrophy was lacking in the right praecordial leads; in 5 patients an rS complex was seen in the left praecordial leads. Gross thickening of pulmonary valve cusps was found at operation in 4 of the 8 patients who were operated on. Although phenotypically related, Turner's and Noonan's syndromes are associated with different and distinct cardiovascular anomalies.
Subject(s)
Aortic Coarctation/complications , Heart Valve Diseases/complications , Turner Syndrome/complications , Adolescent , Aortic Valve Stenosis/complications , Child , Child, Preschool , Electrocardiography , Female , Humans , Karyotyping , Male , Phenotype , Phonocardiography , Pulmonary Valve Stenosis/complicationsABSTRACT
In this report a description is given of a female newborn with minor physical stigmata presenting a partial trisomy for the second region of chromosome 3 (3q32 leads to 3qter). The additional 3q2 material is located at the distal end of the long arms of chromosome 2 as the result of a de novo 3/2 germinal translocation.