대한병리학회지: 제 36 권 제 5 호 2002

The Korean Journal of Pathology. 2002; 36: 338-40

Partial Trisomy 13 (Patau Syndrome)

- An Autopsy Report -

∙ Hyung Sik Shin

Kyung Chan Choi∙ Trisomy 13 (Patau syndrome) is rare and usually fatal if contracted within the first six months
∙ Jung Lae Seo1
Young Euy Park∙ of life. We report a case of a male fetus with the typical features of Patau syndrome. He was
Sung Won Lee1∙ Eu Sun Ro1 terminated in a 27-year-old mother at the gestational age of 32+4 weeks. In chromsomal anal-
Yong Pil Kim2 ysis by GTG banding technique, the karyotype of the fetus was 46,XY,rec(13)
dup(13q)inv(13)(p13q21.3)(=partial trisomy 13q); and his mother’ s karyotype was 46,XX,
Departments of Pathology and 1Obstetrics inv(13)(p13q21.3)(=pericentric inversion). His father had normal karyotype, 46,XY. Ultra-
and Gynecology, College of Medicine sonography showed fluid-nature content, which was occupying the entire intracranium, but
Hallym University, Chuncheon; preserving the brain stem and cerebellum. Postmortem examination disclosed holoprosen-
Department of 2Obstetrics and cephaly, hydrocephalus, a single nostril, bilateral anophthalmia, ventricular septal defect, and
Gynecology, Pohang Christian Hospital, a single umbilical artery.
Pohang, Korea

Received : January 30, 2002

Accepted : August 3, 2002

Corresponding Author
Kyung Chan Choi, M.D.
Department of Pathology, Chuncheon Sacred Heart
Hospital, Hallym University, 153 Kyo-dong,
Chuncheon 200-073, Korea
Tel: 033-252-9970
Fax: 033-256-4161
E-mail: [email protected] Key Words : Autopsy-Trisomy-Holoprosencephaly-Karyotyping

Trisomy 13 was first described in 1960 by Patau, who linked stem and cerebellum. Tests for hepatitis B surface antigen and
chromosomal defect with a variety of congenital malformations.1 syphilis were negative, and the mother’ s blood group was AB,
These include those of the central nervous system (mental defi- Rh-positive. The placenta weighed 600 g. The fetus’ s heart rate
ciency, motor seizures, deafness, moderate microcephaly and was 80/minute, and its heartbeat was very weak. The Apgar
microphthalmia), cleft lips with or without cleft palate, cardiac scores were 2 at 1 minute and 0 at 5 minutes. An external
malformations in 80% of cases (ventricular septal defect, patent examination showed a hydropic neonate, weighing 2,000 g and
ductus arteriosus, cardiomyopathy and dextroposition), and poly- having a crown-heel length of 46 cm. The head, measuring 29
dactyly hands and, sometimes, feet. It is one of the three main cm in circumference, appeared large in comparison to the rest of
autosomal trisomies compatible with life, the others being tri- the body. Both eyebrows were attached. Cyanosis was found in
somies 21 and 18.2 We report a rare case of partial trisomy 13. the lip, face and nail beds. The fetal skin was pale. There was a
single nostril and bilateral anophthalmia (Fig. 1A). The abdomen
was distended, measuring 23 cm in circumference. Postmortem
CASE REPORT radiograph was unremarkable.
On a gross examination of the internal organs, the heart
A male fetus was terminated in a 27-year-old female at the revealed a ventricular septal defect and patent ductus arteriosus.
gestational period of 32+4 weeks. Antenatal ultrasonic examina- The distended abdominal cavity was filled with amber fluid.
tion revealed a cystic brain with a relatively preserved brain The brain weighed 109g and measured 11×7×2 cm. Holo-

338
Partial Trisomy 13 (Patau Syndrome) 339

prosencephaly, (type 1, cyclopia) indicating the failure of separa- while its father had normal karyotype.
tion of prosencephalon, and hydrocephalus were found (Fig.
1B). Other internal organs including the lungs, thymus, spleen,
gastrointestinal tract, liver, pancreas, kidneys, adrenal glands DISCUSSION
and urinary bladder were unremarkable. Histologically, cerebel-
lar folia displayed a polymicrogyria pattern with further divi- The classical features of Patau syndrome, or trisomy 13, are
sion. Choroid plexus epithelium was found. The umbilical cord defects of the auricles, eyes (microphthalmia, iris coloboma,
showed a single umbilical artery. The liver, lung, spleen, and strabismus, etc), and mouth (cleft lip, palate or both), holopros-
kidney were congested. encephaly sequence (including arrhinencephaly, cebocephaly,
Chromosomal analysis of peripheral blood lymphocytes after and others), hemangiomas, polydactyly, hyperconvex finger-
birth showed 46,XY,rec(13)dup(13q)inv(13)(p13q21.3)(=par- nails, scalp defects, and heart defects. They are usually severe
tial trisomy 13q) in the neonate (Fig. 2A) and 46,XX,inv(13) enough to ensure death within months of birth.3
(p13q21.3)(=pericentric inversion) in its mother (Fig. 2B), The incidence of trisomy 13 is about 1 in 15,000 births. It is

10 20 30 A 10 20 30 B

Fig. 1. (A) Gross examination shows enlarged head, short neck, one nostril and anophthalmia. (B) Holoprosencephaly and hydro-
cephalus are seen in the coronal sections of brain.

q34

p13 q21.3
p13 q21.3

q13 p13
q21.3 q21.3

q34
q34

A B

Fig. 2. Kayrotype results are 46, XY, rec (13) dup (13q) inv (13)(p13q21.3)(=partial trisomy 13q) in the male neonate (A) and 46, XX, inv
(13)(p13q21.3)(=pericentric inversion) in his mothe (B).
 340 Kyung Chan Choi∙Hyung Sik Shin∙Young Euy Park, et al.

Table 1. Clinical manifestations in patient with full and partial tri- ciated with aneuploidis for other chromosomal segments, (2)
somy 13 gene interactions, (3) imprinting effects, (4) interchromosomal
Full trisomy 13 Partial trisomy 13 effects (Table 1).5
Microcephaly + + Naor et al.6 stated that besides genetic factors causing malfor-
Low-set ears + (+) mations in children with trisomy 13, unknown exogenous
Cleft palate + -
Cleft lip + -
agents must be taken into account as possible mechanisms.
Congenital heart disease + (+) Boyd et al.7 reported the increased occurrence of pre-eclampsia
Cryptorchidism (+) - in mothers of children with trisomy 13 (5/14) in comparison
Polydactyly + (+)
Fetal hemoglobin elevation (+) (+) with mothers of children with trisomy 21 and 18 and mothers
of children without chromosomal anomalies (0/28). It still
( ): not obligatory.
remains to be proven whether a chromosomal anomaly in the
estimated that the frequency of trisomy 13 is 100 times higher child has any influence on the development of pre-eclampsia.
in spontaneous abortions than in liveborns.4 Magenis et al.3 No clinical evidence of pre-eclampsia was present in our case.
reported that 28% of the few surviving liveborns died in the
first week after birth, 44% within the first month and 86%
within their first year. The median survival of children with tri- REFERENCES
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