American journal of diseases of children · 1965 · 30 citations · 5 references
Life SciencesGeneticsPediatricsCytogeneticsHuman GeneticsPediatric GeneticsCongenital AnomaliesCongenital DisordersCongenital MalformationsFetal AnomaliesCongenital Anomalies GeneticsCongenital Anomalies In NewbornsFetal Chromosomal AbnormalitiesMultiple Congenital Anomalies
<h3>Introduction</h3> AN EXTRA small metacentric chromosome associated with multiple congenital anomalies has been described by Frøland et al<sup>1</sup>and Gustavson and coworkers.<sup>2</sup>This report concerns a similar type of chromosomal abnormality found in a mentally retarded male infant with multiple congenital malformations. <h3>Report of a Case</h3> A 16-month-old male infant (MGH No. 119 65 15) was admitted for evaluation of developmental retardation. Pregnancy was normal, but labor was induced two weeks before the expected date of delivery. Delivery was without complications and the birth weight was 6 lb, 10 oz (3,006 gm). Three hours after birth, tachypnea, an expiratory grunt, and cyanosis of lips and extremities were noted. X-ray films of the chest were normal, and the patient improved during the next two days. Development was generally slow. He first held his head well at 11 months and sat alone at 15 months; at 16 months he
5
A human skin culture technique used for cytological examinations.
Harnden Dg · PubMed · 1960 · 122 citations · Full text
Medicine, Dermatology, Pathology +14
[PARTIAL DELETION OF THE LONG ARMS OF THE CHROMOSOME 18].
J. de Grouchy, P Royer, C Salmon et al. · PubMed · 1964 · 121 citations
Diverse Chromosomal Anomalies in Two Siblings
K. H. Gustavson, L. Atkins, I. PATRICKS · Acta Paediatrica · 1964 · 26 citations
Life Sciences, Genetics, Pediatrics +12