Betty eventually becomes pregnant. She presented for ultrasonography at 18 weeks of gestation and the results revealed fetal abnormalities including a Ventricular Septal Defect (VSD) and tricuspid atresia (shown below). ULTRASOUNDS IMAGING CONSULTANT GA(LMP)=36820 P100 SMHz GER 40 40.1 CG15 CN3 9cm9 220822 72076 IVS +0:48:50 00 Aortic outflow 13 19 EV RV 20 2 7 8 TIS=0.6 At 35 weeks' gestation, additional ultrasonography indicated that further heart defects and the possibility of flexed extremities. Amniocentesis and karyotyping of the fetus (Patient D) shows the results below. cm/s 21 3 9 Hypolastic RV Tricuspid atresia ASD Ostium primum ASD + tricuspid atresia 14 15 16 17 10 11 12 5 22 X 200 18 The karyotype of the fetus (Patient D), written in Human Cytogenetic Nomenclature is: The absence of fetal movement during ultrasonography at 37 weeks led to an immediate caesarean birth. At the time of delivery, the Patient D was found to have decreased neurologic activity and respiratory depression. The patient D's clinical condition worsened, and she died at 5 days of age. What is the most likely reason that Betty is phenotypically normal: Why does the fetus (Patient D) have a phenotype?

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Betty eventually becomes pregnant. She presented for ultrasonography at 18 weeks of
gestation and the results revealed fetal abnormalities including a Ventricular Septal Defect
(VSD) and tricuspid atresia (shown below).
ULTRASOUNDS IMAGING CONSULTANT GA(LMP)=36820 P100 SMHz
GER
40
40.1
CG15
CN3
9cm9
220822
72076
IVS
+0:48:50
00
Aortic outflow
13
19
EV
RV
20
2
7 8
TIS=0.6
At 35 weeks' gestation, additional ultrasonography indicated that further heart defects and the
possibility of flexed extremities.
Amniocentesis and karyotyping of the fetus (Patient D) shows the results below.
cm/s
21
3
9
Hypolastic RV
Tricuspid
atresia
ASD
Ostium primum ASD + tricuspid atresia
14 15 16 17
10 11 12
5
22 X
200
18
Transcribed Image Text:Betty eventually becomes pregnant. She presented for ultrasonography at 18 weeks of gestation and the results revealed fetal abnormalities including a Ventricular Septal Defect (VSD) and tricuspid atresia (shown below). ULTRASOUNDS IMAGING CONSULTANT GA(LMP)=36820 P100 SMHz GER 40 40.1 CG15 CN3 9cm9 220822 72076 IVS +0:48:50 00 Aortic outflow 13 19 EV RV 20 2 7 8 TIS=0.6 At 35 weeks' gestation, additional ultrasonography indicated that further heart defects and the possibility of flexed extremities. Amniocentesis and karyotyping of the fetus (Patient D) shows the results below. cm/s 21 3 9 Hypolastic RV Tricuspid atresia ASD Ostium primum ASD + tricuspid atresia 14 15 16 17 10 11 12 5 22 X 200 18
The karyotype of the fetus (Patient D), written in Human Cytogenetic Nomenclature is:
The absence of fetal movement during ultrasonography at 37 weeks led to an immediate
caesarean birth.
At the time of delivery, the Patient D was found to have decreased neurologic activity and
respiratory depression.
The patient D's clinical condition worsened, and she died at 5 days of age.
What is the most likely reason that Betty is phenotypically normal:
Why does the fetus (Patient D) have a phenotype?
Transcribed Image Text:The karyotype of the fetus (Patient D), written in Human Cytogenetic Nomenclature is: The absence of fetal movement during ultrasonography at 37 weeks led to an immediate caesarean birth. At the time of delivery, the Patient D was found to have decreased neurologic activity and respiratory depression. The patient D's clinical condition worsened, and she died at 5 days of age. What is the most likely reason that Betty is phenotypically normal: Why does the fetus (Patient D) have a phenotype?
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