Variable Expressivity in Patau Syndrome is Not All Related to Trisomy 13 Mosaicism

By Hui-Fang Hsu1 and Jia-Woei Hou
Department of Pediatrics, Chang Gung Children’s Hospital, Taoyuan, Taiwan
Chang Gung Institute of Technology, Taoyuan, Taiwan
Received 17 April 2006; Accepted 13 March 2007

Patau syndrome (trisomy 13) is very rare in live-born babies. Individuals with this chromosomal syndrome have a short lifespan and are rarely seen beyond infancy. This study is aimed at the clinical spectrum, natural history, and survival of patients with trisomy 13. We reviewed the detailed data of 13 Patau syndrome live-born babies. Among them two individuals were delivered from continuation of pregnancy even after prenatal diagnosis. The remaining 11 patients were born to younger mothers who did not undergo amniocentesis because no major anomalies except for cleft lip/palate were found on prenatal sonograms. The common features of Patau syndrome including the clinical triad (microphthalmia, cleft lip/palate, and polydactyly) and non-cyanotic heart defects were always found in our series. However, certain serious central defects (holoprosencephaly, omphalocele, and single umbilical artery), which are easily recognized from prenatal sonogram, occurred less frequently than those stated in the literature. The median survival time was 95 days and was longer than that previously reported. There were two infants with trisomic mosaicism with different outcomes in both clinical spectrum and survival. Otherwise, we also found the increased recurrence risks of aneuploidy in two individuals, and the longest survivor (84 months) of nonmosaic trisomy 13 in Taiwan. We thus suggest that longterm survival in our series is strongly correlated with different expressivity after prenatal selection, in addition to cytogenetic mosaicism. Less associated anomalies such as polyhydramnios, oligohydramnios, intrauterine growth retardation, single umbilical artery, eye defects, holoprosencephaly, omphalocele, and polycystic kidney may contribute to their clinical courses. 2007 Wiley-Liss, Inc.

Key words: Patau syndrome; trisomy 13; recurrent aneuploidy; mosaicism; long-term survival

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Patau syndrome with a long survival: a case report

By: A.C. Duarte, A.I.C. Menezes, E.S. Devens, J.M. Roth, G.L. Garcias and M.G. Martino-Roth

Genetics and Molecular Research 3 (2): 288-292 (2004)

ABSTRACT

Trisomy 13 is a clinically severe entity; 85% of the patients do not survive beyond one year, and most children die before completing six months of age. We report a female child, 28 months old, white, the fourth child of a non-consanguineous couple, who presented trisomy 13. The child was born at term, from a vaginal delivery, weighing 2600 g. At birth, she was cyanotic, icteric, spastic, and cried weakly. The initial clinical examination detected polydactyly in the left hand, congenital clubfoot and convex soles, ocular hypertelorism, a low nasal bridge, numerous hemangiomas distributed throughout the body, cardiomegaly, and perimembranous inter-ventricular communication. There was no cleft lip or palate. On physical examination at 18 months old, the child weighed 6,900 g, had a cephalic perimeter of 41 cm, a thoracic perimeter of 43 cm and was 76 cm tall. At 28 months, she weighed 10,760 g and was 88.5 cm tall. Neuropsychomotor development retardation was evident from birth and, according to the psychologist and the social assistant of APAE (Handicapped Parents and Friends Association) in Canguçu, Rio Grande do Sul, there was a noticeable improvement after physiotherapy and recreational sessions.

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Can rationing possibly be rational?

2011 Canadian Medical Association or its licensors

CMAJ 2011. DOI:10.1503/cmaj.109-3932

Annie Farlow was just short of three months old when she died in an Ontario hospital of what her parents believe might have been a treatable respiratory condition.

Born with the chromosome disorder Trisomy 13, Annie had little chance of surviving to her teens, but her parents, Barbara and Tim Farlow, took comfort in the hospital’s assurance that her disorder wouldn’t preclude her from receiving the same level of care as any other child with a medical condition.

But months after Annie’s death, the Farlows discovered that physicians had not initiated emergency resuscitation measures with the same alacrity as in other cases. They also learned that a physician had placed a “do not resuscitate” order on Annie’s chart without their consent. Subsequently, their daughter received an undisclosed quantity of narcotics that, in their opinion, may have caused her “unexplained, rapid” decline.

The circumstances surrounding Annie’s death have the Farlows asking questions that plague Canadian patient advocates, health care workers, ethicists and policy-makers faced with a growing scarcity of resources: When is it appropriate to limit or withdraw potentially beneficial treatment? How should decisions be made? Who should make them?

“I never took the position that my daughter had a right to any and all treatments, but the unilateral decisions we believe the doctors made should have been made transparently. We have a right to know and appeal the limits of the system and be provided with whatever care is possible within its confines,” Barbara Farlow says. “Not only do I believe my daughter was denied a chance to prolong her life, the secrecy in which decisions seem to have been made also meant she was denied timely palliative care, and she suffered greatly at the end.”

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