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ix, 169 pages, 4 unnumbered pages of plates : illustrations ; 23 cm

Antenatal diagnosis of genetic disease

An achondroplasic female, daughter of an achondroplasic father, one of two sisters (see L0033870). Has had caesarian section.

An achondroplasic female, c 1912

An achondroplasic female, daugter of an achondroplasic father, one of two sisters (see L0033869). Has had caesarian section. Has already one achondroplasic child.

An achondroplasic female, c. 1912

Ethical, social, and legal dimensions of screening for human genetic disease

Human chromosomes at metaphase, showing Fragile X
chromosome. Intact nucleus also shown for
comparison.

Fragile X metaphase spread + nucleus

Human chromosomes at metaphase, showing Fragile X
chromosome. Intact nucleus shown for comparison.

Photograph showing a mother and two daughters with lobster claw deformity, a genetic defect. This condition may also affect the feet and Pearson's caption reads: Split foot or lobster claw family.

Mother and daughters with lobster claw deformity, c. 1912

Human chromosomes at metaphase, showing Fragile X
chromosome.

Fragile X metaphase spread

XYY syndrome karyotype. This male has an extra Y chromosome.

XYY syndrome karyotype 47,XYY

Human cells at interphase, stained to show pentameric (5 copies) X chromosomes.

Interphase cells showing pentameric X

DiGeorge syndrome. Deleted and non-deleted cells.
The chromosomes have been made fluorescent with
probes that bind to specific sequences of DNA
(fluorescence in situ hybridisation or FISH).
There has been a deletion in chromosome 22. A
control probe marks the telomeres of both 22
homologues. A probe from the Tuple 1 region of the
DiGeorge Syndrome Critical Region (DGSCR) marks
the hemizygous deletion in 22a11.
The syndrome is due to the absence of the thymus
and parathyroid glands, resulting in impaired
immunity, short stature, and deformities of the
face, heart and great vessels. Also called thymic-
parathyroid aplasia.
Image by Dr John Crolla.

DiGeorge syndrome - deleted/nondeleted FISH

Human chromosomes at metaphase highlighted by fluorescent
probes that bind to specific sequences of DNA. A
translocation between chromosomes 11 and 22
(11;22) is shown up by bcr/abl cosmid probes (red
and green).
Image by Dr John Crolla

Translocation shown up by cosmid probes

Human chromosomes highlighted by fluorescent
probes that bind to specific sequences of DNA. a
translocation between chromosomes 11 and 22
(11;22) is shown up by bcr/abl cosmid probes (red
and green).
Image by Dr John Crolla.

Translocation, shown by cosmid probes

Pedigree chart of Duchenne muscular dystrophy,
constructed from restriction length polyorphism
fragment (RFLP) studies.

Duchenne muscular dystrophy pedigree chart

Down syndrome karyotype (formerly called trisomy
21 syndrome or mongolism), human male, 47,XY,+21.
This male has a full chromosome complement plus an
extra chromosome 21. Symptoms include a varying
degree of mental retardation, growth failure,
muscular hypotoicity, flay occiput, large tongue,
slanting eyesm, simian palmar crease, intestinal
and heart problems, and acute leukaemia. Older
survivors often develop Alzheimer's disease in
their fourth or fifth decade. The syndrome is
associated with advanced maternal age.

Down syndrome human karyotype 47,XY,+21

Chromosomes from a patient with isolated familial
aniridia. The chromosomes have been made
fluorescent with probes that bind to specific
sequences of DNA. A cosmid probe F02121 (red) shows
up the deletion in chromosome 11, and a green
fluorescent probe shows up the chromosome 11
centromeres.
This condition involves the developmental absence
of most of the iris. Its base is present on the
ciliary body, and often upsets the aqueous
outflow mechanism. Also called irideremia.
Image by Dr John Crolla.

Familial aniridia deletion shown by cosmid

Metaphase spread of human chromosomes, with deletion on chromosome 15 del(15)(q11q13).

Metaphase, deletion on chromosome 15

Human chromosomes highlighted by fluorescent
probes which bind to specific sequences of DNA.
This FISH (fluorescence in situ hybridisation)
study is of a patient with spoaraic isolated
aniridia (failure of the iris to develop) and an
apparently balanced translocation between
chromosomes 7 and 11, t(7;11). These FISH results
show that the break-point in 11p13 is between PAX6
(upper cell) which is retained on the der(11) -
green centromere signals and red cosmids - and
normal 11. The lower cell shows result with F02121
which lies about 100 KB distal to PAX6. In this
case, the cosmid signals (in red as are the 7 and
der(7)) can be seen on the normal 11 and der(7)
respectively. The 11p13 break-point, therefore,
lies in the approx 100 KB internal between PAX6 and

Aniridia + translocation, FISH & cosmid prob

Triple-X karyotype. This female has an extra X
chromosome.

Triple-X chromosome aberration karyotype

Turner's syndrome karyotype 45,XO. This female lacks the second X chromosome present in the normal karyotype. Symptoms include short stature, neck wbbing, elbow deformity, widely spaced nipples with shield chest, primary amenorrhea, sexual infantilism and sterility. The ovaries are reduced to fibrous streaks. Also known as XO syndrome or ovarian short-stature syndrome.

XYY syndrome karyotype 46,XYY

Human karyotype - leukaemia. There has been a translocation between chromosomes 8 and 14.
Image by Dr Fiona Ross.

Leukamia karyotype t(8;14)

Human chromosomes at metaphase, highlighted with
fluorescent probes that bind to specific sequences
of DNA. This cell is from the amniotic fluid of a
patient with an unbalanced translocation between
chromosomes 4 and 9, t(4,9). The bcr cosmid (red)
is present on both chromosome 9 homologues, and also
at the distal tip of the short arm of the der(4) -
chromosome 4.
Image by Dr John Crolla.

Human metaphase, translocation, cosmid probe

Inversion in the X chromosome 46,X,inv(X)9p21.2?q22.3. One of this pair of human X chromosomes contains a segment that has been broken off then rejoined the opposite way round.

Inversion in X chromosome

Fragile X pedigree and restriction fragment length
polymorphism (rflp) autoradiograph showing CGG
repeat expansion. Repeats of the base sequence CGG
are a characteristic of this chromosome
abnormality. The bands on the autoradiograph
represent fragments of the DNA of the Fragile X
chromosome which have been cut by enzymes at
specific base sequences.

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Antenatal diagnosis of genetic disease

An achondroplasic female, c 1912

An achondroplasic female, c. 1912

Ethical, social, and legal dimensions of screening for human genetic disease

Fragile X metaphase spread + nucleus

Fragile X metaphase spread + nucleus

Mother and daughters with lobster claw deformity, c. 1912

Fragile X metaphase spread

XYY syndrome karyotype 47,XYY

Interphase cells showing pentameric X

DiGeorge syndrome - deleted/nondeleted FISH

Translocation shown up by cosmid probes

Translocation, shown by cosmid probes

Duchenne muscular dystrophy pedigree chart

Down syndrome human karyotype 47,XY,+21

Familial aniridia deletion shown by cosmid

Metaphase, deletion on chromosome 15

Aniridia + translocation, FISH & cosmid prob

Triple-X chromosome aberration karyotype

XYY syndrome karyotype 46,XYY

Leukamia karyotype t(8;14)

Human metaphase, translocation, cosmid probe

Inversion in X chromosome

Fragile X pedigree + rflp autoradiograph

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Antenatal diagnosis of genetic disease

An achondroplasic female, c 1912

An achondroplasic female, c. 1912

Ethical, social, and legal dimensions of screening for human genetic disease

Fragile X metaphase spread + nucleus

Fragile X metaphase spread + nucleus

Mother and daughters with lobster claw deformity, c. 1912

Fragile X metaphase spread

XYY syndrome karyotype 47,XYY

Interphase cells showing pentameric X

DiGeorge syndrome - deleted/nondeleted FISH

Translocation shown up by cosmid probes

Translocation, shown by cosmid probes

Duchenne muscular dystrophy pedigree chart

Down syndrome human karyotype 47,XY,+21

Familial aniridia deletion shown by cosmid

Metaphase, deletion on chromosome 15

Aniridia + translocation, FISH & cosmid prob

Triple-X chromosome aberration karyotype

XYY syndrome karyotype 46,XYY

Leukamia karyotype t(8;14)

Human metaphase, translocation, cosmid probe

Inversion in X chromosome

Fragile X pedigree + rflp autoradiograph

Stay in the know

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