"Understanding Adam" multiple reciprocal translocations: complex case presentation.
This article presents a case review of a newborn diagnosed with a complex chromosomal rearrangement, as demonstrated through a painted chromosomal analysis. This infant presented with multiple dysmorphology including cutis aplasia, multiple ocular malformations, bilateral cleft lip and palate, and postnatal hydrocephaly. A chromosomal analysis revealed multiple-ways, balanced translocation involving chromosomes 3, 4, 6, 8, and 9. This case study provides a unique opportunity to, in retrospect, trace each malformation exploring the pathophysiology, etiology, and correlating origin with chromosomal variation. Careful review of this case, enhanced by the visually augmented representation of each translocation, will increase understanding of chromosomal anomalies and their implications in embryological development and clinical presentation.
Linder
Carie E
CE
Neonatal Intensive Care Unit, Integris Baptist Medical Center, Oklahoma City, Oklahoma, USA. carie.linder@integrishealth.com
Lu
Xianglan
X
Kim
Young Mi
YM
Li
Shibo
S
Pineda
Jose
J
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000196:embryology / Q000235:genetics* / Q000451:nursing; D055673:Acrocallosal Syndrome / Q000235:genetics; D020223:Chromosome Painting; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D003616:Dandy-Walker Syndrome / Q000235:genetics*; D004423:Ear / Q000002:abnormalities; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005124:Eye Abnormalities / Q000235:genetics*; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D015931:Intensive Care, Neonatal; D008297:Male; D009730:Nursing Assessment; D014178:Translocation, Genetic / Q000235:genetics*